Canonical Allele Identifier: CA6988690

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 1134697
• ClinVar RCV Id: RCV001579789 ; RCV001820163
• dbSNP Id: rs199924281
• ExAC: 13:52515357 G / C
• gnomAD v2: 13-52515357-G-C
• gnomAD v3: 13-51941221-G-C
• gnomAD v4: 13-51941221-G-C
• MyVariant Identifiers: chr13:g.52515357G>C (hg19) ; chr13:g.51941221G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941221G>C , CM000675.2:g.51941221G>C	GRCh38
NC_000013.10:g.52515357G>C , CM000675.1:g.52515357G>C	GRCh37
NC_000013.9:g.51413358G>C	NCBI36
NG_008806.1:g.75274C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1066C>G	ENSP00000489512.2:n.*1066C>G
ENST00000673864.2:c.*2160C>G	ENSP00000501045.2:n.*2160C>G
ENST00000674147.2:c.2795C>G	ENSP00000500964.2:p.Ala932Gly
ENST00000242839.10:c.3416C>G MANE Select	ENSP00000242839.5:p.Ala1139Gly
ENST00000344297.9:c.2795C>G	ENSP00000342559.5:p.Ala932Gly
ENST00000400366.6:c.3083C>G	ENSP00000383217.3:p.Ala1028Gly
ENST00000448424.7:c.3164C>G	ENSP00000416738.3:p.Ala1055Gly
ENST00000673772.1:c.3182C>G	ENSP00000501168.1:p.Ala1061Gly
ENST00000673867.1:n.3555C>G
ENST00000674126.1:n.3779C>G
ENST00000674147.1:c.2351C>G	ENSP00000500964.1:p.Ala784Gly
ENST00000242839.8:c.3416C>G	ENSP00000242839.4:p.Ala1139Gly
ENST00000344297.8:c.2795C>G	ENSP00000342559.5:p.Ala932Gly
ENST00000400366.5:c.3083C>G	ENSP00000383217.3:p.Ala1028Gly
ENST00000400370.8:c.2126C>G	ENSP00000383221.3:p.Ala709Gly
ENST00000418097.7:c.3221C>G	ENSP00000393343.2:p.Ala1074Gly
ENST00000448424.6:c.3182C>G	ENSP00000416738.2:p.Ala1061Gly
ENST00000634296.1:c.1194C>G
ENST00000634308.1:c.*517C>G	ENSP00000489234.1:n.*517C>G
ENST00000634620.1:n.4160C>G
ENST00000634810.1:n.2761C>G
ENST00000634844.1:c.3272C>G	ENSP00000489398.1:p.Ala1091Gly
NM_000053.3:c.3416C>G	NP_000044.2:p.Ala1139Gly
NM_001005918.2:c.2795C>G	NP_001005918.1:p.Ala932Gly
NM_001243182.1:c.3083C>G	NP_001230111.1:p.Ala1028Gly
XM_005266423.2:c.3320C>G	XP_005266480.1:p.Ala1107Gly
XM_005266424.3:c.3320C>G	XP_005266481.1:p.Ala1107Gly
XM_005266427.2:c.3182C>G	XP_005266484.1:p.Ala1061Gly
XM_005266428.1:c.3164C>G	XP_005266485.1:p.Ala1055Gly
XM_005266430.3:c.3416C>G	XP_005266487.1:p.Ala1139Gly
XM_005266431.2:c.3380C>G	XP_005266488.1:p.Ala1127Gly
XM_005266432.2:c.2930C>G	XP_005266489.1:p.Ala977Gly
XM_006719837.2:c.3320C>G	XP_006719900.1:p.Ala1107Gly
XM_006719838.1:c.1232C>G	XP_006719901.1:p.Ala411Gly
XM_006719839.1:c.1049C>G	XP_006719902.1:p.Ala350Gly
XM_011535117.1:c.3320C>G	XP_011533419.1:p.Ala1107Gly
XM_011535118.1:c.3281C>G	XP_011533420.1:p.Ala1094Gly
XM_011535119.1:c.3233C>G	XP_011533421.1:p.Ala1078Gly
XM_011535120.1:c.3002C>G	XP_011533422.1:p.Ala1001Gly
XM_011535121.1:c.2903C>G	XP_011533423.1:p.Ala968Gly
XM_011535122.1:c.2084C>G	XP_011533424.1:p.Ala695Gly
XR_941601.1:n.3635C>G
XR_941602.1:n.3635C>G
XR_941603.1:n.3635C>G
XR_941604.1:n.3635C>G
NM_001330578.1:c.3182C>G	NP_001317507.1:p.Ala1061Gly
NM_001330579.1:c.3164C>G	NP_001317508.1:p.Ala1055Gly
XM_005266424.4:c.3320C>G	XP_005266481.1:p.Ala1107Gly
XM_005266430.4:c.3416C>G	XP_005266487.1:p.Ala1139Gly
XM_005266431.4:c.3380C>G	XP_005266488.1:p.Ala1127Gly
XM_006719837.3:c.3320C>G	XP_006719900.1:p.Ala1107Gly
XM_011535117.3:c.3320C>G	XP_011533419.1:p.Ala1107Gly
XM_017020627.1:c.3320C>G	XP_016876116.1:p.Ala1107Gly
NM_000053.4:c.3416C>G MANE Select	NP_000044.2:p.Ala1139Gly
NM_001005918.3:c.2795C>G	NP_001005918.1:p.Ala932Gly
NM_001330579.2:c.3164C>G	NP_001317508.1:p.Ala1055Gly
NM_001243182.2:c.3083C>G	NP_001230111.1:p.Ala1028Gly
NM_001330578.2:c.3182C>G	NP_001317507.1:p.Ala1061Gly