SNP Links for Protein (Select 767909500) - SNP

Links from Protein

Items: 1 to 20 of 547

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Select item 14899414091.

rs1489941409 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:212100936 (GRCh38)
1:212274278 (GRCh37)
Canonical SPDI:: NC_000001.11:212100935:T:C
Gene:: DTL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.212100936T>C, NC_000001.10:g.212274278T>C, NM_016448.4:c.1946T>C, NM_016448.3:c.1946T>C, NM_016448.2:c.1946T>C, XM_011509614.2:c.1760T>C, XM_011509614.1:c.1760T>C, NM_001286230.2:c.1820T>C, NM_001286230.1:c.1820T>C, NM_001286229.2:c.1133T>C, NM_001286229.1:c.1133T>C, XM_047422489.1:c.1133T>C, NP_057532.4:p.Met649Thr, XP_011507916.1:p.Met587Thr, NP_001273159.2:p.Met607Thr, NP_001273158.2:p.Met378Thr, XP_047278445.1:p.Met378Thr

Select item 14864828902.

rs1486482890 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:212078224 (GRCh38)
1:212251566 (GRCh37)
Canonical SPDI:: NC_000001.11:212078223:G:A
Gene:: DTL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.212078224G>A, NC_000001.10:g.212251566G>A, NM_016448.4:c.1087G>A, NM_016448.3:c.1087G>A, NM_016448.2:c.1087G>A, XM_011509614.2:c.901G>A, XM_011509614.1:c.901G>A, NM_001286230.2:c.961G>A, NM_001286230.1:c.961G>A, NM_001286229.2:c.274G>A, NM_001286229.1:c.274G>A, XM_047422489.1:c.274G>A, NP_057532.4:p.Val363Ile, XP_011507916.1:p.Val301Ile, NP_001273159.2:p.Val321Ile, NP_001273158.2:p.Val92Ile, XP_047278445.1:p.Val92Ile

Select item 14847834773.

rs1484783477 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:212065022 (GRCh38)
1:212238364 (GRCh37)
Canonical SPDI:: NC_000001.11:212065021:C:T
Gene:: DTL (Varview)
Functional Consequence:: upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,missense_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.212065022C>T, NC_000001.10:g.212238364C>T, NM_016448.4:c.632C>T, NM_016448.3:c.632C>T, NM_016448.2:c.632C>T, XM_011509614.2:c.446C>T, XM_011509614.1:c.446C>T, NM_001286230.2:c.506C>T, NM_001286230.1:c.506C>T, NM_001286229.2:c.-78C>T, NM_001286229.1:c.-78C>T, NP_057532.4:p.Pro211Leu, XP_011507916.1:p.Pro149Leu, NP_001273159.2:p.Pro169Leu

Select item 14839574994.

rs1483957499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:212044758 (GRCh38)
1:212218100 (GRCh37)
Canonical SPDI:: NC_000001.11:212044757:G:C
Gene:: DTL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,missense_variant,coding_sequence_variant,5_prime_UTR_variant
HGVS:: NC_000001.11:g.212044758G>C, NC_000001.10:g.212218100G>C, NM_016448.4:c.277G>C, NM_016448.3:c.277G>C, NM_016448.2:c.277G>C, XM_011509614.2:c.91G>C, XM_011509614.1:c.91G>C, NM_001286230.2:c.151G>C, NM_001286230.1:c.151G>C, NM_001286229.2:c.-433G>C, NM_001286229.1:c.-433G>C, NP_057532.4:p.Glu93Gln, XP_011507916.1:p.Glu31Gln, NP_001273159.2:p.Glu51Gln

Select item 14826604695.

rs1482660469 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:212100964 (GRCh38)
1:212274306 (GRCh37)
Canonical SPDI:: NC_000001.11:212100963:G:A
Gene:: DTL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.212100964G>A, NC_000001.10:g.212274306G>A, NM_016448.4:c.1974G>A, NM_016448.3:c.1974G>A, NM_016448.2:c.1974G>A, XM_011509614.2:c.1788G>A, XM_011509614.1:c.1788G>A, NM_001286230.2:c.1848G>A, NM_001286230.1:c.1848G>A, NM_001286229.2:c.1161G>A, NM_001286229.1:c.1161G>A, XM_047422489.1:c.1161G>A

Select item 14772035086.

rs1477203508 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:212080662 (GRCh38)
1:212254004 (GRCh37)
Canonical SPDI:: NC_000001.11:212080661:T:C
Gene:: DTL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.212080662T>C, NC_000001.10:g.212254004T>C, NM_016448.4:c.1173T>C, NM_016448.3:c.1173T>C, NM_016448.2:c.1173T>C, XM_011509614.2:c.987T>C, XM_011509614.1:c.987T>C, NM_001286230.2:c.1047T>C, NM_001286230.1:c.1047T>C, NM_001286229.2:c.360T>C, NM_001286229.1:c.360T>C, XM_047422489.1:c.360T>C

Select item 14764309467.

rs1476430946 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:212100620 (GRCh38)
1:212273962 (GRCh37)
Canonical SPDI:: NC_000001.11:212100619:T:A
Gene:: DTL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.212100620T>A, NC_000001.10:g.212273962T>A, NM_016448.4:c.1630T>A, NM_016448.3:c.1630T>A, NM_016448.2:c.1630T>A, XM_011509614.2:c.1444T>A, XM_011509614.1:c.1444T>A, NM_001286230.2:c.1504T>A, NM_001286230.1:c.1504T>A, NM_001286229.2:c.817T>A, NM_001286229.1:c.817T>A, XM_047422489.1:c.817T>A, NP_057532.4:p.Cys544Ser, XP_011507916.1:p.Cys482Ser, NP_001273159.2:p.Cys502Ser, NP_001273158.2:p.Cys273Ser, XP_047278445.1:p.Cys273Ser

Select item 14702679918.

rs1470267991 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:212068308 (GRCh38)
1:212241650 (GRCh37)
Canonical SPDI:: NC_000001.11:212068307:T:G
Gene:: DTL (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.212068308T>G, NC_000001.10:g.212241650T>G, NM_016448.4:c.798T>G, NM_016448.3:c.798T>G, NM_016448.2:c.798T>G, XM_011509614.2:c.612T>G, XM_011509614.1:c.612T>G, NM_001286230.2:c.672T>G, NM_001286230.1:c.672T>G

Select item 14697572969.

rs1469757296 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:212047407 (GRCh38)
1:212220749 (GRCh37)
Canonical SPDI:: NC_000001.11:212047406:G:A
Gene:: DTL (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.212047407G>A, NC_000001.10:g.212220749G>A, NM_016448.4:c.450G>A, NM_016448.3:c.450G>A, NM_016448.2:c.450G>A, XM_011509614.2:c.264G>A, XM_011509614.1:c.264G>A, NM_001286230.2:c.324G>A, NM_001286230.1:c.324G>A, NM_001286229.2:c.-260G>A, NM_001286229.1:c.-260G>A

Select item 146884578710.

rs1468845787 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:212101015 (GRCh38)
1:212274357 (GRCh37)
Canonical SPDI:: NC_000001.11:212101014:A:G
Gene:: DTL (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.212101015A>G, NC_000001.10:g.212274357A>G, NM_016448.4:c.2025A>G, NM_016448.3:c.2025A>G, NM_016448.2:c.2025A>G, XM_011509614.2:c.1839A>G, XM_011509614.1:c.1839A>G, NM_001286230.2:c.1899A>G, NM_001286230.1:c.1899A>G, NM_001286229.2:c.1212A>G, NM_001286229.1:c.1212A>G, XM_047422489.1:c.1212A>G

Select item 146724183111.

rs1467241831 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:212100263 (GRCh38)
1:212273605 (GRCh37)
Canonical SPDI:: NC_000001.11:212100261:GAG:G
Gene:: DTL (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.212100263_212100264del, NC_000001.10:g.212273605_212273606del, NM_016448.4:c.1273_1274del, NM_016448.3:c.1273_1274del, NM_016448.2:c.1273_1274del, XM_011509614.2:c.1087_1088del, XM_011509614.1:c.1087_1088del, NM_001286230.2:c.1147_1148del, NM_001286230.1:c.1147_1148del, NM_001286229.2:c.460_461del, NM_001286229.1:c.460_461del, XM_047422489.1:c.460_461del, NP_057532.4:p.Thr424_Ser425insTer, XP_011507916.1:p.Thr362_Ser363insTer, NP_001273159.2:p.Thr382_Ser383insTer, NP_001273158.2:p.Thr153_Ser154insTer, XP_047278445.1:p.Thr153_Ser154insTer

Select item 146482238112.

rs1464822381 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:212100355 (GRCh38)
1:212273697 (GRCh37)
Canonical SPDI:: NC_000001.11:212100354:T:C
Gene:: DTL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.212100355T>C, NC_000001.10:g.212273697T>C, NM_016448.4:c.1365T>C, NM_016448.3:c.1365T>C, NM_016448.2:c.1365T>C, XM_011509614.2:c.1179T>C, XM_011509614.1:c.1179T>C, NM_001286230.2:c.1239T>C, NM_001286230.1:c.1239T>C, NM_001286229.2:c.552T>C, NM_001286229.1:c.552T>C, XM_047422489.1:c.552T>C

Select item 145756230113.

rs1457562301 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 1:212100500 (GRCh38)
1:212273842 (GRCh37)
Canonical SPDI:: NC_000001.11:212100499:T:
Gene:: DTL (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.212100500del, NC_000001.10:g.212273842del, NM_016448.4:c.1510del, NM_016448.3:c.1510del, NM_016448.2:c.1510del, XM_011509614.2:c.1324del, XM_011509614.1:c.1324del, NM_001286230.2:c.1384del, NM_001286230.1:c.1384del, NM_001286229.2:c.697del, NM_001286229.1:c.697del, XM_047422489.1:c.697del, NP_057532.4:p.Trp504fs, XP_011507916.1:p.Trp442fs, NP_001273159.2:p.Trp462fs, NP_001273158.2:p.Trp233fs, XP_047278445.1:p.Trp233fs

Select item 145360336614.

rs1453603366 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:212047317 (GRCh38)
1:212220659 (GRCh37)
Canonical SPDI:: NC_000001.11:212047316:A:G
Gene:: DTL (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.212047317A>G, NC_000001.10:g.212220659A>G, NM_016448.4:c.360A>G, NM_016448.3:c.360A>G, NM_016448.2:c.360A>G, XM_011509614.2:c.174A>G, XM_011509614.1:c.174A>G, NM_001286230.2:c.234A>G, NM_001286230.1:c.234A>G, NM_001286229.2:c.-350A>G, NM_001286229.1:c.-350A>G

Select item 145330005415.

rs1453300054 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:212064918 (GRCh38)
1:212238260 (GRCh37)
Canonical SPDI:: NC_000001.11:212064917:T:C
Gene:: DTL (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.212064918T>C, NC_000001.10:g.212238260T>C, NM_016448.4:c.528T>C, NM_016448.3:c.528T>C, NM_016448.2:c.528T>C, XM_011509614.2:c.342T>C, XM_011509614.1:c.342T>C, NM_001286230.2:c.402T>C, NM_001286230.1:c.402T>C, NM_001286229.2:c.-182T>C, NM_001286229.1:c.-182T>C

Select item 145274660016.

rs1452746600 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:212068325 (GRCh38)
1:212241667 (GRCh37)
Canonical SPDI:: NC_000001.11:212068324:T:G
Gene:: DTL (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.212068325T>G, NC_000001.10:g.212241667T>G, NM_016448.4:c.815T>G, NM_016448.3:c.815T>G, NM_016448.2:c.815T>G, XM_011509614.2:c.629T>G, XM_011509614.1:c.629T>G, NM_001286230.2:c.689T>G, NM_001286230.1:c.689T>G, NP_057532.4:p.Leu272Arg, XP_011507916.1:p.Leu210Arg, NP_001273159.2:p.Leu230Arg

Select item 145177082617.

rs1451770826 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:212102884 (GRCh38)
1:212276226 (GRCh37)
Canonical SPDI:: NC_000001.11:212102883:T:G
Gene:: DTL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.212102884T>G, NC_000001.10:g.212276226T>G, NM_016448.4:c.2137T>G, NM_016448.3:c.2137T>G, NM_016448.2:c.2137T>G, XM_011509614.2:c.1951T>G, XM_011509614.1:c.1951T>G, NM_001286230.2:c.2011T>G, NM_001286230.1:c.2011T>G, NM_001286229.2:c.1324T>G, NM_001286229.1:c.1324T>G, XM_047422489.1:c.1324T>G, NP_057532.4:p.Phe713Val, XP_011507916.1:p.Phe651Val, NP_001273159.2:p.Phe671Val, NP_001273158.2:p.Phe442Val, XP_047278445.1:p.Phe442Val

Select item 145002973018.

rs1450029730 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:212080740 (GRCh38)
1:212254082 (GRCh37)
Canonical SPDI:: NC_000001.11:212080739:A:G
Gene:: DTL (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.212080740A>G, NC_000001.10:g.212254082A>G, NM_016448.4:c.1251A>G, NM_016448.3:c.1251A>G, NM_016448.2:c.1251A>G, XM_011509614.2:c.1065A>G, XM_011509614.1:c.1065A>G, NM_001286230.2:c.1125A>G, NM_001286230.1:c.1125A>G, NM_001286229.2:c.438A>G, NM_001286229.1:c.438A>G, XM_047422489.1:c.438A>G

Select item 144823972619.

rs1448239726 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:212044707 (GRCh38)
1:212218049 (GRCh37)
Canonical SPDI:: NC_000001.11:212044706:G:T
Gene:: DTL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000016/4 (GnomAD_exomes)
T=0.000045/12 (TOPMED)
T=0.000064/9 (GnomAD)
HGVS:: NC_000001.11:g.212044707G>T, NC_000001.10:g.212218049G>T, NM_016448.4:c.226G>T, NM_016448.3:c.226G>T, NM_016448.2:c.226G>T, XM_011509614.2:c.40G>T, XM_011509614.1:c.40G>T, NM_001286230.2:c.100G>T, NM_001286230.1:c.100G>T, NM_001286229.2:c.-484G>T, NM_001286229.1:c.-484G>T, NP_057532.4:p.Val76Phe, XP_011507916.1:p.Val14Phe, NP_001273159.2:p.Val34Phe

Select item 144808767920.

rs1448087679 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:212100499 (GRCh38)
1:212273841 (GRCh37)
Canonical SPDI:: NC_000001.11:212100498:C:G
Gene:: DTL (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.212100499C>G, NC_000001.10:g.212273841C>G, NM_016448.4:c.1509C>G, NM_016448.3:c.1509C>G, NM_016448.2:c.1509C>G, XM_011509614.2:c.1323C>G, XM_011509614.1:c.1323C>G, NM_001286230.2:c.1383C>G, NM_001286230.1:c.1383C>G, NM_001286229.2:c.696C>G, NM_001286229.1:c.696C>G, XM_047422489.1:c.696C>G, NP_057532.4:p.Asn503Lys, XP_011507916.1:p.Asn441Lys, NP_001273159.2:p.Asn461Lys, NP_001273158.2:p.Asn232Lys, XP_047278445.1:p.Asn232Lys

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