Canonical Allele Identifier: CA388026670

Gene: ATP7B

Linked Data

• dbSNP Id: rs1957309469
• gnomAD v4: 13-51941192-C-G
• MyVariant Identifiers: chr13:g.52515328C>G (hg19) ; chr13:g.51941192C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941192C>G , CM000675.2:g.51941192C>G	GRCh38
NC_000013.10:g.52515328C>G , CM000675.1:g.52515328C>G	GRCh37
NC_000013.9:g.51413329C>G	NCBI36
NG_008806.1:g.75303G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1095G>C	ENSP00000489512.2:n.*1095G>C
ENST00000673864.2:c.*2189G>C	ENSP00000501045.2:n.*2189G>C
ENST00000674147.2:c.2824G>C	ENSP00000500964.2:p.Gly942Arg
ENST00000242839.10:c.3445G>C MANE Select	ENSP00000242839.5:p.Gly1149Arg
ENST00000344297.9:c.2824G>C	ENSP00000342559.5:p.Gly942Arg
ENST00000400366.6:c.3112G>C	ENSP00000383217.3:p.Gly1038Arg
ENST00000448424.7:c.3193G>C	ENSP00000416738.3:p.Gly1065Arg
ENST00000673772.1:c.3211G>C	ENSP00000501168.1:p.Gly1071Arg
ENST00000673867.1:n.3584G>C
ENST00000674126.1:n.3808G>C
ENST00000674147.1:c.2380G>C	ENSP00000500964.1:p.Gly794Arg
ENST00000242839.8:c.3445G>C	ENSP00000242839.4:p.Gly1149Arg
ENST00000344297.8:c.2824G>C	ENSP00000342559.5:p.Gly942Arg
ENST00000400366.5:c.3112G>C	ENSP00000383217.3:p.Gly1038Arg
ENST00000400370.8:c.2155G>C	ENSP00000383221.3:p.Gly719Arg
ENST00000418097.7:c.3250G>C	ENSP00000393343.2:p.Gly1084Arg
ENST00000448424.6:c.3211G>C	ENSP00000416738.2:p.Gly1071Arg
ENST00000634296.1:c.1223G>C
ENST00000634308.1:c.*546G>C	ENSP00000489234.1:n.*546G>C
ENST00000634620.1:n.4189G>C
ENST00000634810.1:n.2790G>C
ENST00000634844.1:c.3301G>C	ENSP00000489398.1:p.Gly1101Arg
NM_000053.3:c.3445G>C	NP_000044.2:p.Gly1149Arg
NM_001005918.2:c.2824G>C	NP_001005918.1:p.Gly942Arg
NM_001243182.1:c.3112G>C	NP_001230111.1:p.Gly1038Arg
XM_005266423.2:c.3349G>C	XP_005266480.1:p.Gly1117Arg
XM_005266424.3:c.3349G>C	XP_005266481.1:p.Gly1117Arg
XM_005266427.2:c.3211G>C	XP_005266484.1:p.Gly1071Arg
XM_005266428.1:c.3193G>C	XP_005266485.1:p.Gly1065Arg
XM_005266430.3:c.3445G>C	XP_005266487.1:p.Gly1149Arg
XM_005266431.2:c.3409G>C	XP_005266488.1:p.Gly1137Arg
XM_005266432.2:c.2959G>C	XP_005266489.1:p.Gly987Arg
XM_006719837.2:c.3349G>C	XP_006719900.1:p.Gly1117Arg
XM_006719838.1:c.1261G>C	XP_006719901.1:p.Gly421Arg
XM_006719839.1:c.1078G>C	XP_006719902.1:p.Gly360Arg
XM_011535117.1:c.3349G>C	XP_011533419.1:p.Gly1117Arg
XM_011535118.1:c.3310G>C	XP_011533420.1:p.Gly1104Arg
XM_011535119.1:c.3262G>C	XP_011533421.1:p.Gly1088Arg
XM_011535120.1:c.3031G>C	XP_011533422.1:p.Gly1011Arg
XM_011535121.1:c.2932G>C	XP_011533423.1:p.Gly978Arg
XM_011535122.1:c.2113G>C	XP_011533424.1:p.Gly705Arg
XR_941601.1:n.3664G>C
XR_941602.1:n.3664G>C
XR_941603.1:n.3664G>C
XR_941604.1:n.3664G>C
NM_001330578.1:c.3211G>C	NP_001317507.1:p.Gly1071Arg
NM_001330579.1:c.3193G>C	NP_001317508.1:p.Gly1065Arg
XM_005266424.4:c.3349G>C	XP_005266481.1:p.Gly1117Arg
XM_005266430.4:c.3445G>C	XP_005266487.1:p.Gly1149Arg
XM_005266431.4:c.3409G>C	XP_005266488.1:p.Gly1137Arg
XM_006719837.3:c.3349G>C	XP_006719900.1:p.Gly1117Arg
XM_011535117.3:c.3349G>C	XP_011533419.1:p.Gly1117Arg
XM_017020627.1:c.3349G>C	XP_016876116.1:p.Gly1117Arg
NM_000053.4:c.3445G>C MANE Select	NP_000044.2:p.Gly1149Arg
NM_001005918.3:c.2824G>C	NP_001005918.1:p.Gly942Arg
NM_001330579.2:c.3193G>C	NP_001317508.1:p.Gly1065Arg
NM_001243182.2:c.3112G>C	NP_001230111.1:p.Gly1038Arg
NM_001330578.2:c.3211G>C	NP_001317507.1:p.Gly1071Arg