Canonical Allele Identifier: CA483894122

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51941190-T-C
• MyVariant Identifiers: chr13:g.52515326T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941190T>C , CM000675.2:g.51941190T>C	GRCh38
NC_000013.10:g.52515326T>C , CM000675.1:g.52515326T>C	GRCh37
NC_000013.9:g.51413327T>C	NCBI36
NG_008806.1:g.75305A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1097A>G	ENSP00000489512.2:n.*1097A>G
ENST00000673864.2:c.*2191A>G	ENSP00000501045.2:n.*2191A>G
ENST00000674147.2:c.2826A>G	ENSP00000500964.2:p.Gly942=
ENST00000242839.10:c.3447A>G MANE Select	ENSP00000242839.5:p.Gly1149=
ENST00000344297.9:c.2826A>G	ENSP00000342559.5:p.Gly942=
ENST00000400366.6:c.3114A>G	ENSP00000383217.3:p.Gly1038=
ENST00000448424.7:c.3195A>G	ENSP00000416738.3:p.Gly1065=
ENST00000673772.1:c.3213A>G	ENSP00000501168.1:p.Gly1071=
ENST00000673867.1:n.3586A>G
ENST00000674126.1:n.3810A>G
ENST00000674147.1:c.2382A>G	ENSP00000500964.1:p.Gly794=
ENST00000242839.8:c.3447A>G	ENSP00000242839.4:p.Gly1149=
ENST00000344297.8:c.2826A>G	ENSP00000342559.5:p.Gly942=
ENST00000400366.5:c.3114A>G	ENSP00000383217.3:p.Gly1038=
ENST00000400370.8:c.2157A>G	ENSP00000383221.3:p.Gly719=
ENST00000418097.7:c.3252A>G	ENSP00000393343.2:p.Gly1084=
ENST00000448424.6:c.3213A>G	ENSP00000416738.2:p.Gly1071=
ENST00000634296.1:c.1225A>G
ENST00000634308.1:c.*548A>G	ENSP00000489234.1:n.*548A>G
ENST00000634620.1:n.4191A>G
ENST00000634810.1:n.2792A>G
ENST00000634844.1:c.3303A>G	ENSP00000489398.1:p.Gly1101=
NM_000053.3:c.3447A>G	NP_000044.2:p.Gly1149=
NM_001005918.2:c.2826A>G	NP_001005918.1:p.Gly942=
NM_001243182.1:c.3114A>G	NP_001230111.1:p.Gly1038=
XM_005266423.2:c.3351A>G	XP_005266480.1:p.Gly1117=
XM_005266424.3:c.3351A>G	XP_005266481.1:p.Gly1117=
XM_005266427.2:c.3213A>G	XP_005266484.1:p.Gly1071=
XM_005266428.1:c.3195A>G	XP_005266485.1:p.Gly1065=
XM_005266430.3:c.3447A>G	XP_005266487.1:p.Gly1149=
XM_005266431.2:c.3411A>G	XP_005266488.1:p.Gly1137=
XM_005266432.2:c.2961A>G	XP_005266489.1:p.Gly987=
XM_006719837.2:c.3351A>G	XP_006719900.1:p.Gly1117=
XM_006719838.1:c.1263A>G	XP_006719901.1:p.Gly421=
XM_006719839.1:c.1080A>G	XP_006719902.1:p.Gly360=
XM_011535117.1:c.3351A>G	XP_011533419.1:p.Gly1117=
XM_011535118.1:c.3312A>G	XP_011533420.1:p.Gly1104=
XM_011535119.1:c.3264A>G	XP_011533421.1:p.Gly1088=
XM_011535120.1:c.3033A>G	XP_011533422.1:p.Gly1011=
XM_011535121.1:c.2934A>G	XP_011533423.1:p.Gly978=
XM_011535122.1:c.2115A>G	XP_011533424.1:p.Gly705=
XR_941601.1:n.3666A>G
XR_941602.1:n.3666A>G
XR_941603.1:n.3666A>G
XR_941604.1:n.3666A>G
NM_001330578.1:c.3213A>G	NP_001317507.1:p.Gly1071=
NM_001330579.1:c.3195A>G	NP_001317508.1:p.Gly1065=
XM_005266424.4:c.3351A>G	XP_005266481.1:p.Gly1117=
XM_005266430.4:c.3447A>G	XP_005266487.1:p.Gly1149=
XM_005266431.4:c.3411A>G	XP_005266488.1:p.Gly1137=
XM_006719837.3:c.3351A>G	XP_006719900.1:p.Gly1117=
XM_011535117.3:c.3351A>G	XP_011533419.1:p.Gly1117=
XM_017020627.1:c.3351A>G	XP_016876116.1:p.Gly1117=
NM_000053.4:c.3447A>G MANE Select	NP_000044.2:p.Gly1149=
NM_001005918.3:c.2826A>G	NP_001005918.1:p.Gly942=
NM_001330579.2:c.3195A>G	NP_001317508.1:p.Gly1065=
NM_001243182.2:c.3114A>G	NP_001230111.1:p.Gly1038=
NM_001330578.2:c.3213A>G	NP_001317507.1:p.Gly1071=