SNP Links for Protein (Select 15718700) - SNP

Links from Protein

Items: 1 to 20 of 292

<< First< Prev

Page of 15

Next >Last >>

Select item 14820956381.

rs1482095638 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:113721690 (GRCh38)
10:115481449 (GRCh37)
Canonical SPDI:: NC_000010.11:113721689:C:G,NC_000010.11:113721689:C:T
Gene:: CASP7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00011/1 (ALFA)
T=0.00011/2 (TOMMO)
HGVS:: NC_000010.11:g.113721690C>G, NC_000010.11:g.113721690C>T, NC_000010.10:g.115481449C>G, NC_000010.10:g.115481449C>T, NM_033338.6:c.386C>G, NM_033338.6:c.386C>T, NM_033338.5:c.386C>G, NM_033338.5:c.386C>T, NM_033339.5:c.287C>G, NM_033339.5:c.287C>T, NM_033339.4:c.287C>G, NM_033339.4:c.287C>T, NM_001227.5:c.287C>G, NM_001227.5:c.287C>T, NM_001227.4:c.287C>G, NM_001227.4:c.287C>T, NM_033340.4:c.287C>G, NM_033340.4:c.287C>T, NM_033340.3:c.287C>G, NM_033340.3:c.287C>T, XM_006718017.4:c.329C>G, XM_006718017.4:c.329C>T, XM_006718017.3:c.329C>G, XM_006718017.3:c.329C>T, XM_006718017.2:c.329C>G, XM_006718017.2:c.329C>T, XM_006718017.1:c.329C>G, XM_006718017.1:c.329C>T, XM_017016763.2:c.344C>G, XM_017016763.2:c.344C>T, XM_017016763.1:c.344C>G, XM_017016763.1:c.344C>T, XM_011540260.2:c.188C>G, XM_011540260.2:c.188C>T, XM_011540260.1:c.188C>G, XM_011540260.1:c.188C>T, NM_001320911.2:c.311C>G, NM_001320911.2:c.311C>T, NM_001320911.1:c.311C>G, NM_001320911.1:c.311C>T, NM_001267056.2:c.287C>G, NM_001267056.2:c.287C>T, NM_001267056.1:c.287C>G, NM_001267056.1:c.287C>T, NM_001267058.2:c.212C>G, NM_001267058.2:c.212C>T, NM_001267058.1:c.212C>G, NM_001267058.1:c.212C>T, NM_001267057.1:c.542C>G, NM_001267057.1:c.542C>T, NP_203124.1:p.Ala129Gly, NP_203124.1:p.Ala129Val, NP_203125.1:p.Ala96Gly, NP_203125.1:p.Ala96Val, NP_001218.1:p.Ala96Gly, NP_001218.1:p.Ala96Val, NP_203126.1:p.Ala96Gly, NP_203126.1:p.Ala96Val, XP_006718080.1:p.Ala110Gly, XP_006718080.1:p.Ala110Val, XP_016872252.1:p.Ala115Gly, XP_016872252.1:p.Ala115Val, XP_011538562.1:p.Ala63Gly, XP_011538562.1:p.Ala63Val, NP_001307840.1:p.Ala104Gly, NP_001307840.1:p.Ala104Val, NP_001253985.1:p.Ala96Gly, NP_001253985.1:p.Ala96Val, NP_001253987.1:p.Ala71Gly, NP_001253987.1:p.Ala71Val, NP_001253986.1:p.Ala181Gly, NP_001253986.1:p.Ala181Val

Select item 14807767502.

rs1480776750 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:113721774 (GRCh38)
10:115481533 (GRCh37)
Canonical SPDI:: NC_000010.11:113721773:A:G
Gene:: CASP7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000010.11:g.113721774A>G, NC_000010.10:g.115481533A>G, NM_033338.6:c.470A>G, NM_033338.5:c.470A>G, NM_033339.5:c.371A>G, NM_033339.4:c.371A>G, NM_001227.5:c.371A>G, NM_001227.4:c.371A>G, NM_033340.4:c.371A>G, NM_033340.3:c.371A>G, XM_006718017.4:c.413A>G, XM_006718017.3:c.413A>G, XM_006718017.2:c.413A>G, XM_006718017.1:c.413A>G, XM_017016763.2:c.428A>G, XM_017016763.1:c.428A>G, XM_011540260.2:c.272A>G, XM_011540260.1:c.272A>G, NM_001320911.2:c.395A>G, NM_001320911.1:c.395A>G, NM_001267056.2:c.371A>G, NM_001267056.1:c.371A>G, NM_001267058.2:c.296A>G, NM_001267058.1:c.296A>G, NM_001267057.1:c.626A>G, NP_203124.1:p.Lys157Arg, NP_203125.1:p.Lys124Arg, NP_001218.1:p.Lys124Arg, NP_203126.1:p.Lys124Arg, XP_006718080.1:p.Lys138Arg, XP_016872252.1:p.Lys143Arg, XP_011538562.1:p.Lys91Arg, NP_001307840.1:p.Lys132Arg, NP_001253985.1:p.Lys124Arg, NP_001253987.1:p.Lys99Arg, NP_001253986.1:p.Lys209Arg

Select item 14800995893.

rs1480099589 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:113726393 (GRCh38)
10:115486152 (GRCh37)
Canonical SPDI:: NC_000010.11:113726392:C:T
Gene:: CASP7 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.113726393C>T, NC_000010.10:g.115486152C>T, NM_033338.6:c.740C>T, NM_033338.5:c.740C>T, NM_033339.5:c.641C>T, NM_033339.4:c.641C>T, NM_001227.5:c.641C>T, NM_001227.4:c.641C>T, NM_033340.4:c.607C>T, NM_033340.3:c.607C>T, XM_006718017.4:c.683C>T, XM_006718017.3:c.683C>T, XM_006718017.2:c.683C>T, XM_006718017.1:c.683C>T, XM_017016763.2:c.698C>T, XM_017016763.1:c.698C>T, XM_011540260.2:c.542C>T, XM_011540260.1:c.542C>T, NM_001320911.2:c.665C>T, NM_001320911.1:c.665C>T, NM_001267056.2:c.641C>T, NM_001267056.1:c.641C>T, NM_001267058.2:c.566C>T, NM_001267058.1:c.566C>T, NM_001267057.1:c.896C>T, NP_203124.1:p.Pro247Leu, NP_203125.1:p.Pro214Leu, NP_001218.1:p.Pro214Leu, NP_203126.1:p.Gln203Ter, XP_006718080.1:p.Pro228Leu, XP_016872252.1:p.Pro233Leu, XP_011538562.1:p.Pro181Leu, NP_001307840.1:p.Pro222Leu, NP_001253985.1:p.Pro214Leu, NP_001253987.1:p.Pro189Leu, NP_001253986.1:p.Pro299Leu

Select item 14691702744.

rs1469170274 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:113729313 (GRCh38)
10:115489072 (GRCh37)
Canonical SPDI:: NC_000010.11:113729312:T:C
Gene:: CASP7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.113729313T>C, NC_000010.10:g.115489072T>C, NM_033338.6:c.784T>C, NM_033338.5:c.784T>C, NM_033339.5:c.685T>C, NM_033339.4:c.685T>C, NM_001227.5:c.685T>C, NM_001227.4:c.685T>C, NM_033340.4:c.651T>C, NM_033340.3:c.651T>C, XM_006718017.4:c.727T>C, XM_006718017.3:c.727T>C, XM_006718017.2:c.727T>C, XM_006718017.1:c.727T>C, XM_017016763.2:c.742T>C, XM_017016763.1:c.742T>C, XM_011540260.2:c.586T>C, XM_011540260.1:c.586T>C, NM_001320911.2:c.709T>C, NM_001320911.1:c.709T>C, NM_001267056.2:c.685T>C, NM_001267056.1:c.685T>C, NM_001267058.2:c.610T>C, NM_001267058.1:c.610T>C, NM_001267057.1:c.940T>C, NP_203124.1:p.Tyr262His, NP_203125.1:p.Tyr229His, NP_001218.1:p.Tyr229His, XP_006718080.1:p.Tyr243His, XP_016872252.1:p.Tyr248His, XP_011538562.1:p.Tyr196His, NP_001307840.1:p.Tyr237His, NP_001253985.1:p.Tyr229His, NP_001253987.1:p.Tyr204His, NP_001253986.1:p.Tyr314His

Select item 14679441415.

rs1467944141 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,G [Show Flanks]
Chromosome:: 10:113729447 (GRCh38)
10:115489206 (GRCh37)
Canonical SPDI:: NC_000010.11:113729446:T:A,NC_000010.11:113729446:T:G
Gene:: CASP7 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.113729447T>A, NC_000010.11:g.113729447T>G, NC_000010.10:g.115489206T>A, NC_000010.10:g.115489206T>G, NM_033338.6:c.918T>A, NM_033338.6:c.918T>G, NM_033338.5:c.918T>A, NM_033338.5:c.918T>G, NM_033339.5:c.819T>A, NM_033339.5:c.819T>G, NM_033339.4:c.819T>A, NM_033339.4:c.819T>G, NM_001227.5:c.819T>A, NM_001227.5:c.819T>G, NM_001227.4:c.819T>A, NM_001227.4:c.819T>G, NM_033340.4:c.*23T>A, NM_033340.4:c.*23T>G, NM_033340.3:c.*23T>A, NM_033340.3:c.*23T>G, XM_006718017.4:c.861T>A, XM_006718017.4:c.861T>G, XM_006718017.3:c.861T>A, XM_006718017.3:c.861T>G, XM_006718017.2:c.861T>A, XM_006718017.2:c.861T>G, XM_006718017.1:c.861T>A, XM_006718017.1:c.861T>G, XM_017016763.2:c.876T>A, XM_017016763.2:c.876T>G, XM_017016763.1:c.876T>A, XM_017016763.1:c.876T>G, XM_011540260.2:c.720T>A, XM_011540260.2:c.720T>G, XM_011540260.1:c.720T>A, XM_011540260.1:c.720T>G, NM_001320911.2:c.843T>A, NM_001320911.2:c.843T>G, NM_001320911.1:c.843T>A, NM_001320911.1:c.843T>G, NM_001267056.2:c.819T>A, NM_001267056.2:c.819T>G, NM_001267056.1:c.819T>A, NM_001267056.1:c.819T>G, NM_001267058.2:c.744T>A, NM_001267058.2:c.744T>G, NM_001267058.1:c.744T>A, NM_001267058.1:c.744T>G, NM_001267057.1:c.1074T>A, NM_001267057.1:c.1074T>G, NP_203124.1:p.Phe306Leu, NP_203124.1:p.Phe306Leu, NP_203125.1:p.Phe273Leu, NP_203125.1:p.Phe273Leu, NP_001218.1:p.Phe273Leu, NP_001218.1:p.Phe273Leu, XP_006718080.1:p.Phe287Leu, XP_006718080.1:p.Phe287Leu, XP_016872252.1:p.Phe292Leu, XP_016872252.1:p.Phe292Leu, XP_011538562.1:p.Phe240Leu, XP_011538562.1:p.Phe240Leu, NP_001307840.1:p.Phe281Leu, NP_001307840.1:p.Phe281Leu, NP_001253985.1:p.Phe273Leu, NP_001253985.1:p.Phe273Leu, NP_001253987.1:p.Phe248Leu, NP_001253987.1:p.Phe248Leu, NP_001253986.1:p.Phe358Leu, NP_001253986.1:p.Phe358Leu

Select item 14643291476.

rs1464329147 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:113726412 (GRCh38)
10:115486171 (GRCh37)
Canonical SPDI:: NC_000010.11:113726411:C:T
Gene:: CASP7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0./0 (GnomAD)
HGVS:: NC_000010.11:g.113726412C>T, NC_000010.10:g.115486171C>T, NM_033338.6:c.759C>T, NM_033338.5:c.759C>T, NM_033339.5:c.660C>T, NM_033339.4:c.660C>T, NM_001227.5:c.660C>T, NM_001227.4:c.660C>T, NM_033340.4:c.626C>T, NM_033340.3:c.626C>T, XM_006718017.4:c.702C>T, XM_006718017.3:c.702C>T, XM_006718017.2:c.702C>T, XM_006718017.1:c.702C>T, XM_017016763.2:c.717C>T, XM_017016763.1:c.717C>T, XM_011540260.2:c.561C>T, XM_011540260.1:c.561C>T, NM_001320911.2:c.684C>T, NM_001320911.1:c.684C>T, NM_001267056.2:c.660C>T, NM_001267056.1:c.660C>T, NM_001267058.2:c.585C>T, NM_001267058.1:c.585C>T, NM_001267057.1:c.915C>T, NP_203126.1:p.Ser209Phe

Select item 14499490917.

rs1449949091 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:113729374 (GRCh38)
10:115489133 (GRCh37)
Canonical SPDI:: NC_000010.11:113729373:T:C
Gene:: CASP7 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000085/3 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.113729374T>C, NC_000010.10:g.115489133T>C, NM_033338.6:c.845T>C, NM_033338.5:c.845T>C, NM_033339.5:c.746T>C, NM_033339.4:c.746T>C, NM_001227.5:c.746T>C, NM_001227.4:c.746T>C, NM_033340.4:c.712T>C, NM_033340.3:c.712T>C, XM_006718017.4:c.788T>C, XM_006718017.3:c.788T>C, XM_006718017.2:c.788T>C, XM_006718017.1:c.788T>C, XM_017016763.2:c.803T>C, XM_017016763.1:c.803T>C, XM_011540260.2:c.647T>C, XM_011540260.1:c.647T>C, NM_001320911.2:c.770T>C, NM_001320911.1:c.770T>C, NM_001267056.2:c.746T>C, NM_001267056.1:c.746T>C, NM_001267058.2:c.671T>C, NM_001267058.1:c.671T>C, NM_001267057.1:c.1001T>C, NP_203124.1:p.Leu282Pro, NP_203125.1:p.Leu249Pro, NP_001218.1:p.Leu249Pro, NP_203126.1:p.Trp238Arg, XP_006718080.1:p.Leu263Pro, XP_016872252.1:p.Leu268Pro, XP_011538562.1:p.Leu216Pro, NP_001307840.1:p.Leu257Pro, NP_001253985.1:p.Leu249Pro, NP_001253987.1:p.Leu224Pro, NP_001253986.1:p.Leu334Pro

Select item 14491137738.

rs1449113773 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:113721032 (GRCh38)
10:115480791 (GRCh37)
Canonical SPDI:: NC_000010.11:113721031:T:C
Gene:: CASP7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.113721032T>C, NC_000010.10:g.115480791T>C, NM_033338.6:c.210T>C, NM_033338.5:c.210T>C, NM_033339.5:c.111T>C, NM_033339.4:c.111T>C, NM_001227.5:c.111T>C, NM_001227.4:c.111T>C, NM_033340.4:c.111T>C, NM_033340.3:c.111T>C, XM_006718017.4:c.153T>C, XM_006718017.3:c.153T>C, XM_006718017.2:c.153T>C, XM_006718017.1:c.153T>C, XM_017016763.2:c.168T>C, XM_017016763.1:c.168T>C, XM_011540260.2:c.12T>C, XM_011540260.1:c.12T>C, NM_001320911.2:c.135T>C, NM_001320911.1:c.135T>C, NM_001267056.2:c.111T>C, NM_001267056.1:c.111T>C, NM_001267058.2:c.36T>C, NM_001267058.1:c.36T>C, NM_001267057.1:c.366T>C

Select item 14481291769.

rs1448129176 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:113729516 (GRCh38)
10:115489275 (GRCh37)
Canonical SPDI:: NC_000010.11:113729515:C:G
Gene:: CASP7 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,3_prime_UTR_variant
HGVS:: NC_000010.11:g.113729516C>G, NC_000010.10:g.115489275C>G, NM_033338.6:c.987C>G, NM_033338.5:c.987C>G, NM_033339.5:c.888C>G, NM_033339.4:c.888C>G, NM_001227.5:c.888C>G, NM_001227.4:c.888C>G, NM_033340.4:c.*92C>G, NM_033340.3:c.*92C>G, XM_006718017.4:c.930C>G, XM_006718017.3:c.930C>G, XM_006718017.2:c.930C>G, XM_006718017.1:c.930C>G, XM_017016763.2:c.945C>G, XM_017016763.1:c.945C>G, XM_011540260.2:c.789C>G, XM_011540260.1:c.789C>G, NM_001320911.2:c.912C>G, NM_001320911.1:c.912C>G, NM_001267056.2:c.888C>G, NM_001267056.1:c.888C>G, NM_001267058.2:c.813C>G, NM_001267058.1:c.813C>G, NM_001267057.1:c.1143C>G

Select item 143942420910.

rs1439424209 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:113725507 (GRCh38)
10:115485266 (GRCh37)
Canonical SPDI:: NC_000010.11:113725506:T:C
Gene:: CASP7 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.113725507T>C, NC_000010.10:g.115485266T>C, NM_033338.6:c.621T>C, NM_033338.5:c.621T>C, NM_033339.5:c.522T>C, NM_033339.4:c.522T>C, NM_001227.5:c.522T>C, NM_001227.4:c.522T>C, XM_006718017.4:c.564T>C, XM_006718017.3:c.564T>C, XM_006718017.2:c.564T>C, XM_006718017.1:c.564T>C, XM_017016763.2:c.579T>C, XM_017016763.1:c.579T>C, XM_011540260.2:c.423T>C, XM_011540260.1:c.423T>C, NM_001320911.2:c.546T>C, NM_001320911.1:c.546T>C, NM_001267056.2:c.522T>C, NM_001267056.1:c.522T>C, NM_001267058.2:c.447T>C, NM_001267058.1:c.447T>C, NM_001267057.1:c.777T>C

Select item 142724693911.

rs1427246939 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:113721714 (GRCh38)
10:115481473 (GRCh37)
Canonical SPDI:: NC_000010.11:113721713:T:C
Gene:: CASP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000010.11:g.113721714T>C, NC_000010.10:g.115481473T>C, NM_033338.6:c.410T>C, NM_033338.5:c.410T>C, NM_033339.5:c.311T>C, NM_033339.4:c.311T>C, NM_001227.5:c.311T>C, NM_001227.4:c.311T>C, NM_033340.4:c.311T>C, NM_033340.3:c.311T>C, XM_006718017.4:c.353T>C, XM_006718017.3:c.353T>C, XM_006718017.2:c.353T>C, XM_006718017.1:c.353T>C, XM_017016763.2:c.368T>C, XM_017016763.1:c.368T>C, XM_011540260.2:c.212T>C, XM_011540260.1:c.212T>C, NM_001320911.2:c.335T>C, NM_001320911.1:c.335T>C, NM_001267056.2:c.311T>C, NM_001267056.1:c.311T>C, NM_001267058.2:c.236T>C, NM_001267058.1:c.236T>C, NM_001267057.1:c.566T>C, NP_203124.1:p.Leu137Pro, NP_203125.1:p.Leu104Pro, NP_001218.1:p.Leu104Pro, NP_203126.1:p.Leu104Pro, XP_006718080.1:p.Leu118Pro, XP_016872252.1:p.Leu123Pro, XP_011538562.1:p.Leu71Pro, NP_001307840.1:p.Leu112Pro, NP_001253985.1:p.Leu104Pro, NP_001253987.1:p.Leu79Pro, NP_001253986.1:p.Leu189Pro

Select item 141985314112.

rs1419853141 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 10:113725401 (GRCh38)
10:115485160 (GRCh37)
Canonical SPDI:: NC_000010.11:113725400:G:C
Gene:: CASP7 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000010.11:g.113725401G>C, NC_000010.10:g.115485160G>C, NM_033338.6:c.515G>C, NM_033338.5:c.515G>C, NM_033339.5:c.416G>C, NM_033339.4:c.416G>C, NM_001227.5:c.416G>C, NM_001227.4:c.416G>C, NM_033340.4:c.416G>C, NM_033340.3:c.416G>C, XM_006718017.4:c.458G>C, XM_006718017.3:c.458G>C, XM_006718017.2:c.458G>C, XM_006718017.1:c.458G>C, XM_017016763.2:c.473G>C, XM_017016763.1:c.473G>C, XM_011540260.2:c.317G>C, XM_011540260.1:c.317G>C, NM_001320911.2:c.440G>C, NM_001320911.1:c.440G>C, NM_001267056.2:c.416G>C, NM_001267056.1:c.416G>C, NM_001267058.2:c.341G>C, NM_001267058.1:c.341G>C, NM_001267057.1:c.671G>C, NP_203124.1:p.Cys172Ser, NP_203125.1:p.Cys139Ser, NP_001218.1:p.Cys139Ser, NP_203126.1:p.Cys139Ser, XP_006718080.1:p.Cys153Ser, XP_016872252.1:p.Cys158Ser, XP_011538562.1:p.Cys106Ser, NP_001307840.1:p.Cys147Ser, NP_001253985.1:p.Cys139Ser, NP_001253987.1:p.Cys114Ser, NP_001253986.1:p.Cys224Ser

Select item 141866273413.

rs1418662734 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:113697603 (GRCh38)
10:115457362 (GRCh37)
Canonical SPDI:: NC_000010.11:113697602:G:A
Gene:: CASP7 (Varview)
Functional Consequence:: missense_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.113697603G>A, NC_000010.10:g.115457362G>A, NM_033338.6:c.209G>A, NM_033338.5:c.209G>A, NM_033339.5:c.110G>A, NM_033339.4:c.110G>A, NM_001227.5:c.110G>A, NM_001227.4:c.110G>A, NM_033340.4:c.110G>A, NM_033340.3:c.110G>A, XM_006718017.4:c.121G>A, XM_006718017.3:c.121G>A, XM_006718017.2:c.121G>A, XM_006718017.1:c.121G>A, XM_017016763.2:c.167G>A, XM_017016763.1:c.167G>A, NM_001320911.2:c.103G>A, NM_001320911.1:c.103G>A, NM_001267056.2:c.110G>A, NM_001267056.1:c.110G>A, NM_001267057.1:c.334G>A, NP_203124.1:p.Ser70Asn, NP_203125.1:p.Ser37Asn, NP_001218.1:p.Ser37Asn, NP_203126.1:p.Ser37Asn, XP_006718080.1:p.Ala41Thr, XP_016872252.1:p.Ser56Asn, NP_001307840.1:p.Ala35Thr, NP_001253985.1:p.Ser37Asn, NP_001253986.1:p.Ala112Thr

Select item 140991871014.

rs1409918710 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 10:113697526 (GRCh38)
10:115457285 (GRCh37)
Canonical SPDI:: NC_000010.11:113697525:GGGGG:GGGG
Gene:: CASP7 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.113697530del, NC_000010.10:g.115457289del, NM_033338.6:c.136del, NM_033338.5:c.136del, NM_033339.5:c.37del, NM_033339.4:c.37del, NM_001227.5:c.37del, NM_001227.4:c.37del, NM_033340.4:c.37del, NM_033340.3:c.37del, XM_006718017.4:c.48del, XM_006718017.3:c.48del, XM_006718017.2:c.48del, XM_006718017.1:c.48del, XM_017016763.2:c.94del, XM_017016763.1:c.94del, NM_001320911.2:c.30del, NM_001320911.1:c.30del, NM_001267056.2:c.37del, NM_001267056.1:c.37del, NM_001267057.1:c.261del, NP_203124.1:p.Val46fs, NP_203125.1:p.Val13fs, NP_001218.1:p.Val13fs, NP_203126.1:p.Val13fs, XP_006718080.1:p.Gly16_Leu17insTer, XP_016872252.1:p.Val32fs, NP_001307840.1:p.Gly10_Leu11insTer, NP_001253985.1:p.Val13fs, NP_001253986.1:p.Gly87_Leu88insTer

Select item 140979703915.

rs1409797039 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGGAT [Show Flanks]
Chromosome:: 10:113725463 (GRCh38)
10:115485223 (GRCh37)
Canonical SPDI:: NC_000010.11:113725463:AGGAT:AGGATAGGAT
Gene:: CASP7 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,intron_variant
Validated:: by frequency
MAF:: AGGAT=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.113725464_113725468dup, NC_000010.10:g.115485223_115485227dup, NM_033338.6:c.578_582dup, NM_033338.5:c.578_582dup, NM_033339.5:c.479_483dup, NM_033339.4:c.479_483dup, NM_001227.5:c.479_483dup, NM_001227.4:c.479_483dup, XM_006718017.4:c.521_525dup, XM_006718017.3:c.521_525dup, XM_006718017.2:c.521_525dup, XM_006718017.1:c.521_525dup, XM_017016763.2:c.536_540dup, XM_017016763.1:c.536_540dup, XM_011540260.2:c.380_384dup, XM_011540260.1:c.380_384dup, NM_001320911.2:c.503_507dup, NM_001320911.1:c.503_507dup, NM_001267056.2:c.479_483dup, NM_001267056.1:c.479_483dup, NM_001267058.2:c.404_408dup, NM_001267058.1:c.404_408dup, NM_001267057.1:c.734_738dup, NP_203124.1:p.Leu195fs, NP_203125.1:p.Leu162fs, NP_001218.1:p.Leu162fs, XP_006718080.1:p.Leu176fs, XP_016872252.1:p.Leu181fs, XP_011538562.1:p.Leu129fs, NP_001307840.1:p.Leu170fs, NP_001253985.1:p.Leu162fs, NP_001253987.1:p.Leu137fs, NP_001253986.1:p.Leu247fs

Select item 140377724816.

rs1403777248 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:113725453 (GRCh38)
10:115485212 (GRCh37)
Canonical SPDI:: NC_000010.11:113725452:C:G,NC_000010.11:113725452:C:T
Gene:: CASP7 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
HGVS:: NC_000010.11:g.113725453C>G, NC_000010.11:g.113725453C>T, NC_000010.10:g.115485212C>G, NC_000010.10:g.115485212C>T, NM_033338.6:c.567C>G, NM_033338.6:c.567C>T, NM_033338.5:c.567C>G, NM_033338.5:c.567C>T, NM_033339.5:c.468C>G, NM_033339.5:c.468C>T, NM_033339.4:c.468C>G, NM_033339.4:c.468C>T, NM_001227.5:c.468C>G, NM_001227.5:c.468C>T, NM_001227.4:c.468C>G, NM_001227.4:c.468C>T, XM_006718017.4:c.510C>G, XM_006718017.4:c.510C>T, XM_006718017.3:c.510C>G, XM_006718017.3:c.510C>T, XM_006718017.2:c.510C>G, XM_006718017.2:c.510C>T, XM_006718017.1:c.510C>G, XM_006718017.1:c.510C>T, XM_017016763.2:c.525C>G, XM_017016763.2:c.525C>T, XM_017016763.1:c.525C>G, XM_017016763.1:c.525C>T, XM_011540260.2:c.369C>G, XM_011540260.2:c.369C>T, XM_011540260.1:c.369C>G, XM_011540260.1:c.369C>T, NM_001320911.2:c.492C>G, NM_001320911.2:c.492C>T, NM_001320911.1:c.492C>G, NM_001320911.1:c.492C>T, NM_001267056.2:c.468C>G, NM_001267056.2:c.468C>T, NM_001267056.1:c.468C>G, NM_001267056.1:c.468C>T, NM_001267058.2:c.393C>G, NM_001267058.2:c.393C>T, NM_001267058.1:c.393C>G, NM_001267058.1:c.393C>T, NM_001267057.1:c.723C>G, NM_001267057.1:c.723C>T

Select item 139915035117.

rs1399150351 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 10:113729367 (GRCh38)
10:115489126 (GRCh37)
Canonical SPDI:: NC_000010.11:113729366:T:G
Gene:: CASP7 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.113729367T>G, NC_000010.10:g.115489126T>G, NM_033338.6:c.838T>G, NM_033338.5:c.838T>G, NM_033339.5:c.739T>G, NM_033339.4:c.739T>G, NM_001227.5:c.739T>G, NM_001227.4:c.739T>G, NM_033340.4:c.705T>G, NM_033340.3:c.705T>G, XM_006718017.4:c.781T>G, XM_006718017.3:c.781T>G, XM_006718017.2:c.781T>G, XM_006718017.1:c.781T>G, XM_017016763.2:c.796T>G, XM_017016763.1:c.796T>G, XM_011540260.2:c.640T>G, XM_011540260.1:c.640T>G, NM_001320911.2:c.763T>G, NM_001320911.1:c.763T>G, NM_001267056.2:c.739T>G, NM_001267056.1:c.739T>G, NM_001267058.2:c.664T>G, NM_001267058.1:c.664T>G, NM_001267057.1:c.994T>G, NP_203124.1:p.Ser280Ala, NP_203125.1:p.Ser247Ala, NP_001218.1:p.Ser247Ala, XP_006718080.1:p.Ser261Ala, XP_016872252.1:p.Ser266Ala, XP_011538562.1:p.Ser214Ala, NP_001307840.1:p.Ser255Ala, NP_001253985.1:p.Ser247Ala, NP_001253987.1:p.Ser222Ala, NP_001253986.1:p.Ser332Ala

Select item 139228010618.

rs1392280106 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:113726416 (GRCh38)
10:115486175 (GRCh37)
Canonical SPDI:: NC_000010.11:113726415:G:A
Gene:: CASP7 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000010.11:g.113726416G>A, NC_000010.10:g.115486175G>A, NM_033338.6:c.763G>A, NM_033338.5:c.763G>A, NM_033339.5:c.664G>A, NM_033339.4:c.664G>A, NM_001227.5:c.664G>A, NM_001227.4:c.664G>A, NM_033340.4:c.630G>A, NM_033340.3:c.630G>A, XM_006718017.4:c.706G>A, XM_006718017.3:c.706G>A, XM_006718017.2:c.706G>A, XM_006718017.1:c.706G>A, XM_017016763.2:c.721G>A, XM_017016763.1:c.721G>A, XM_011540260.2:c.565G>A, XM_011540260.1:c.565G>A, NM_001320911.2:c.688G>A, NM_001320911.1:c.688G>A, NM_001267056.2:c.664G>A, NM_001267056.1:c.664G>A, NM_001267058.2:c.589G>A, NM_001267058.1:c.589G>A, NM_001267057.1:c.919G>A, NP_203124.1:p.Ala255Thr, NP_203125.1:p.Ala222Thr, NP_001218.1:p.Ala222Thr, XP_006718080.1:p.Ala236Thr, XP_016872252.1:p.Ala241Thr, XP_011538562.1:p.Ala189Thr, NP_001307840.1:p.Ala230Thr, NP_001253985.1:p.Ala222Thr, NP_001253987.1:p.Ala197Thr, NP_001253986.1:p.Ala307Thr

Select item 139220360819.

rs1392203608 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 10:113725504 (GRCh38)
10:115485263 (GRCh37)
Canonical SPDI:: NC_000010.11:113725503:C:A,NC_000010.11:113725503:C:G
Gene:: CASP7 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.113725504C>A, NC_000010.11:g.113725504C>G, NC_000010.10:g.115485263C>A, NC_000010.10:g.115485263C>G, NM_033338.6:c.618C>A, NM_033338.6:c.618C>G, NM_033338.5:c.618C>A, NM_033338.5:c.618C>G, NM_033339.5:c.519C>A, NM_033339.5:c.519C>G, NM_033339.4:c.519C>A, NM_033339.4:c.519C>G, NM_001227.5:c.519C>A, NM_001227.5:c.519C>G, NM_001227.4:c.519C>A, NM_001227.4:c.519C>G, XM_006718017.4:c.561C>A, XM_006718017.4:c.561C>G, XM_006718017.3:c.561C>A, XM_006718017.3:c.561C>G, XM_006718017.2:c.561C>A, XM_006718017.2:c.561C>G, XM_006718017.1:c.561C>A, XM_006718017.1:c.561C>G, XM_017016763.2:c.576C>A, XM_017016763.2:c.576C>G, XM_017016763.1:c.576C>A, XM_017016763.1:c.576C>G, XM_011540260.2:c.420C>A, XM_011540260.2:c.420C>G, XM_011540260.1:c.420C>A, XM_011540260.1:c.420C>G, NM_001320911.2:c.543C>A, NM_001320911.2:c.543C>G, NM_001320911.1:c.543C>A, NM_001320911.1:c.543C>G, NM_001267056.2:c.519C>A, NM_001267056.2:c.519C>G, NM_001267056.1:c.519C>A, NM_001267056.1:c.519C>G, NM_001267058.2:c.444C>A, NM_001267058.2:c.444C>G, NM_001267058.1:c.444C>A, NM_001267058.1:c.444C>G, NM_001267057.1:c.774C>A, NM_001267057.1:c.774C>G

Select item 139029767120.

rs1390297671 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 10:113725447 (GRCh38)
10:115485206 (GRCh37)
Canonical SPDI:: NC_000010.11:113725446:T:C,NC_000010.11:113725446:T:G
Gene:: CASP7 (Varview)
Functional Consequence:: intron_variant,missense_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.113725447T>C, NC_000010.11:g.113725447T>G, NC_000010.10:g.115485206T>C, NC_000010.10:g.115485206T>G, NM_033338.6:c.561T>C, NM_033338.6:c.561T>G, NM_033338.5:c.561T>C, NM_033338.5:c.561T>G, NM_033339.5:c.462T>C, NM_033339.5:c.462T>G, NM_033339.4:c.462T>C, NM_033339.4:c.462T>G, NM_001227.5:c.462T>C, NM_001227.5:c.462T>G, NM_001227.4:c.462T>C, NM_001227.4:c.462T>G, XM_006718017.4:c.504T>C, XM_006718017.4:c.504T>G, XM_006718017.3:c.504T>C, XM_006718017.3:c.504T>G, XM_006718017.2:c.504T>C, XM_006718017.2:c.504T>G, XM_006718017.1:c.504T>C, XM_006718017.1:c.504T>G, XM_017016763.2:c.519T>C, XM_017016763.2:c.519T>G, XM_017016763.1:c.519T>C, XM_017016763.1:c.519T>G, XM_011540260.2:c.363T>C, XM_011540260.2:c.363T>G, XM_011540260.1:c.363T>C, XM_011540260.1:c.363T>G, NM_001320911.2:c.486T>C, NM_001320911.2:c.486T>G, NM_001320911.1:c.486T>C, NM_001320911.1:c.486T>G, NM_001267056.2:c.462T>C, NM_001267056.2:c.462T>G, NM_001267056.1:c.462T>C, NM_001267056.1:c.462T>G, NM_001267058.2:c.387T>C, NM_001267058.2:c.387T>G, NM_001267058.1:c.387T>C, NM_001267058.1:c.387T>G, NM_001267057.1:c.717T>C, NM_001267057.1:c.717T>G, NP_203124.1:p.Asp187Glu, NP_203125.1:p.Asp154Glu, NP_001218.1:p.Asp154Glu, XP_006718080.1:p.Asp168Glu, XP_016872252.1:p.Asp173Glu, XP_011538562.1:p.Asp121Glu, NP_001307840.1:p.Asp162Glu, NP_001253985.1:p.Asp154Glu, NP_001253987.1:p.Asp129Glu, NP_001253986.1:p.Asp239Glu

<< First< Prev

Page of 15

Next >Last >>

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 292

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity