SNP Links for Protein (Select 767968780) - SNP

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 11:62338167 (GRCh38)
11:62105639 (GRCh37)
Canonical SPDI:: NC_000011.10:62338166:GG:G,NC_000011.10:62338166:GG:GGG
Gene:: ASRGL1 (Varview)
Functional Consequence:: coding_sequence_variant,splice_donor_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.62338168del, NC_000011.10:g.62338168dup, NC_000011.9:g.62105640del, NC_000011.9:g.62105640dup

Select item 144322631315.

rs1443226313 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:62356375 (GRCh38)
11:62123847 (GRCh37)
Canonical SPDI:: NC_000011.10:62356374:A:G
Gene:: ASRGL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.62356375A>G, NC_000011.9:g.62123847A>G, NM_025080.4:c.241A>G, NM_025080.3:c.241A>G, XM_011545266.4:c.241A>G, XM_011545266.3:c.241A>G, XM_011545266.2:c.241A>G, XM_011545266.1:c.241A>G, XM_011545265.4:c.241A>G, XM_011545265.3:c.241A>G, XM_011545265.2:c.241A>G, XM_011545265.1:c.241A>G, NM_001083926.2:c.241A>G, NM_001083926.1:c.241A>G, XM_047427632.1:c.241A>G, XM_047427631.1:c.241A>G, NP_079356.3:p.Ile81Val, XP_011543568.1:p.Ile81Val, XP_011543567.1:p.Ile81Val, NP_001077395.1:p.Ile81Val, XP_047283588.1:p.Ile81Val, XP_047283587.1:p.Ile81Val

Select item 143630185216.

rs1436301852 [Homo sapiens]

Variant type:: DEL
Alleles:: AGACGTACTCG>- [Show Flanks]
Chromosome:: 11:62381836 (GRCh38)
11:62149308 (GRCh37)
Canonical SPDI:: NC_000011.10:62381835:AGACGTACTCG:
Gene:: ASRGL1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000162/3 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000036/5 (GnomAD)
-=0.00067/3 (Estonian)
HGVS:: NC_000011.10:g.62381836_62381846del, NC_000011.9:g.62149308_62149318del, XM_011545266.4:c.531_541del, XM_011545266.3:c.531_541del, XM_011545266.2:c.531_541del, XM_011545266.1:c.531_541del, XM_047427632.1:c.531_541del, XP_011543568.1:p.Asp178fs, XP_047283588.1:p.Asp178fs

Select item 143013815117.

rs1430138151 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:62338143 (GRCh38)
11:62105615 (GRCh37)
Canonical SPDI:: NC_000011.10:62338142:G:T
Gene:: ASRGL1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.62338143G>T, NC_000011.9:g.62105615G>T, NM_025080.4:c.166G>T, NM_025080.3:c.166G>T, XM_011545266.4:c.166G>T, XM_011545266.3:c.166G>T, XM_011545266.2:c.166G>T, XM_011545266.1:c.166G>T, XM_011545265.4:c.166G>T, XM_011545265.3:c.166G>T, XM_011545265.2:c.166G>T, XM_011545265.1:c.166G>T, NM_001083926.2:c.166G>T, NM_001083926.1:c.166G>T, XM_047427632.1:c.166G>T, XM_047427631.1:c.166G>T, NP_079356.3:p.Glu56Ter, XP_011543568.1:p.Glu56Ter, XP_011543567.1:p.Glu56Ter, NP_001077395.1:p.Glu56Ter, XP_047283588.1:p.Glu56Ter, XP_047283587.1:p.Glu56Ter

Select item 142797383918.

rs1427973839 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:62338020 (GRCh38)
11:62105492 (GRCh37)
Canonical SPDI:: NC_000011.10:62338019:A:G
Gene:: ASRGL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.62338020A>G, NC_000011.9:g.62105492A>G, NM_025080.4:c.43A>G, NM_025080.3:c.43A>G, XM_011545266.4:c.43A>G, XM_011545266.3:c.43A>G, XM_011545266.2:c.43A>G, XM_011545266.1:c.43A>G, XM_011545265.4:c.43A>G, XM_011545265.3:c.43A>G, XM_011545265.2:c.43A>G, XM_011545265.1:c.43A>G, NM_001083926.2:c.43A>G, NM_001083926.1:c.43A>G, XM_047427632.1:c.43A>G, XM_047427631.1:c.43A>G, NP_079356.3:p.Ile15Val, XP_011543568.1:p.Ile15Val, XP_011543567.1:p.Ile15Val, NP_001077395.1:p.Ile15Val, XP_047283588.1:p.Ile15Val, XP_047283587.1:p.Ile15Val

Select item 141543091119.

rs1415430911 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:62338013 (GRCh38)
11:62105485 (GRCh37)
Canonical SPDI:: NC_000011.10:62338012:C:T
Gene:: ASRGL1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.62338013C>T, NC_000011.9:g.62105485C>T, NM_025080.4:c.36C>T, NM_025080.3:c.36C>T, XM_011545266.4:c.36C>T, XM_011545266.3:c.36C>T, XM_011545266.2:c.36C>T, XM_011545266.1:c.36C>T, XM_011545265.4:c.36C>T, XM_011545265.3:c.36C>T, XM_011545265.2:c.36C>T, XM_011545265.1:c.36C>T, NM_001083926.2:c.36C>T, NM_001083926.1:c.36C>T, XM_047427632.1:c.36C>T, XM_047427631.1:c.36C>T

Select item 141066914620.

rs1410669146 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:62338002 (GRCh38)
11:62105474 (GRCh37)
Canonical SPDI:: NC_000011.10:62338001:G:A,NC_000011.10:62338001:G:C
Gene:: ASRGL1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.62338002G>A, NC_000011.10:g.62338002G>C, NC_000011.9:g.62105474G>A, NC_000011.9:g.62105474G>C, NM_025080.4:c.25G>A, NM_025080.4:c.25G>C, NM_025080.3:c.25G>A, NM_025080.3:c.25G>C, XM_011545266.4:c.25G>A, XM_011545266.4:c.25G>C, XM_011545266.3:c.25G>A, XM_011545266.3:c.25G>C, XM_011545266.2:c.25G>A, XM_011545266.2:c.25G>C, XM_011545266.1:c.25G>A, XM_011545266.1:c.25G>C, XM_011545265.4:c.25G>A, XM_011545265.4:c.25G>C, XM_011545265.3:c.25G>A, XM_011545265.3:c.25G>C, XM_011545265.2:c.25G>A, XM_011545265.2:c.25G>C, XM_011545265.1:c.25G>A, XM_011545265.1:c.25G>C, NM_001083926.2:c.25G>A, NM_001083926.2:c.25G>C, NM_001083926.1:c.25G>A, NM_001083926.1:c.25G>C, XM_047427632.1:c.25G>A, XM_047427632.1:c.25G>C, XM_047427631.1:c.25G>A, XM_047427631.1:c.25G>C, NP_079356.3:p.Gly9Ser, NP_079356.3:p.Gly9Arg, XP_011543568.1:p.Gly9Ser, XP_011543568.1:p.Gly9Arg, XP_011543567.1:p.Gly9Ser, XP_011543567.1:p.Gly9Arg, NP_001077395.1:p.Gly9Ser, NP_001077395.1:p.Gly9Arg, XP_047283588.1:p.Gly9Ser, XP_047283588.1:p.Gly9Arg, XP_047283587.1:p.Gly9Ser, XP_047283587.1:p.Gly9Arg

dbSNP