Canonical Allele Identifier: CA483893454

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2576540
• ClinVar RCV Id: RCV003322655
• dbSNP Id: rs762097856
• gnomAD v4: 13-51937283-A-T
• MyVariant Identifiers: chr13:g.52511419A>T (hg19) ; chr13:g.51937283A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937283A>T , CM000675.2:g.51937283A>T	GRCh38
NC_000013.10:g.52511419A>T , CM000675.1:g.52511419A>T	GRCh37
NC_000013.9:g.51409420A>T	NCBI36
NG_008806.1:g.79212T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1664T>A	ENSP00000489512.2:n.*1664T>A
ENST00000673864.2:c.*2758T>A	ENSP00000501045.2:n.*2758T>A
ENST00000674147.2:c.3393T>A	ENSP00000500964.2:p.Ile1131=
ENST00000242839.10:c.4014T>A MANE Select	ENSP00000242839.5:p.Ile1338=
ENST00000344297.9:c.3393T>A	ENSP00000342559.5:p.Ile1131=
ENST00000400366.6:c.3681T>A	ENSP00000383217.3:p.Ile1227=
ENST00000448424.7:c.3762T>A	ENSP00000416738.3:p.Ile1254=
ENST00000673696.1:n.1337T>A
ENST00000673772.1:c.3780T>A	ENSP00000501168.1:p.Ile1260=
ENST00000673867.1:n.4153T>A
ENST00000673923.1:n.880T>A
ENST00000674147.1:c.2949T>A	ENSP00000500964.1:p.Ile983=
ENST00000242839.8:c.4014T>A	ENSP00000242839.4:p.Ile1338=
ENST00000344297.8:c.3393T>A	ENSP00000342559.5:p.Ile1131=
ENST00000400366.5:c.3681T>A	ENSP00000383217.3:p.Ile1227=
ENST00000400370.8:c.2724T>A	ENSP00000383221.3:p.Ile908=
ENST00000418097.7:c.3819T>A	ENSP00000393343.2:p.Ile1273=
ENST00000448424.6:c.3780T>A	ENSP00000416738.2:p.Ile1260=
ENST00000634296.1:c.1792T>A
ENST00000634308.1:c.*1115T>A	ENSP00000489234.1:n.*1115T>A
ENST00000634620.1:n.4758T>A
ENST00000634810.1:n.3359T>A
ENST00000634844.1:c.3870T>A	ENSP00000489398.1:p.Ile1290=
NM_000053.3:c.4014T>A	NP_000044.2:p.Ile1338=
NM_001005918.2:c.3393T>A	NP_001005918.1:p.Ile1131=
NM_001243182.1:c.3681T>A	NP_001230111.1:p.Ile1227=
XM_005266423.2:c.3918T>A	XP_005266480.1:p.Ile1306=
XM_005266424.3:c.3918T>A	XP_005266481.1:p.Ile1306=
XM_005266427.2:c.3780T>A	XP_005266484.1:p.Ile1260=
XM_005266428.1:c.3762T>A	XP_005266485.1:p.Ile1254=
XM_005266430.3:c.4014T>A	XP_005266487.1:p.Ile1338=
XM_005266431.2:c.3978T>A	XP_005266488.1:p.Ile1326=
XM_005266432.2:c.3528T>A	XP_005266489.1:p.Ile1176=
XM_006719837.2:c.3918T>A	XP_006719900.1:p.Ile1306=
XM_006719838.1:c.1830T>A	XP_006719901.1:p.Ile610=
XM_006719839.1:c.1647T>A	XP_006719902.1:p.Ile549=
XM_011535117.1:c.3918T>A	XP_011533419.1:p.Ile1306=
XM_011535118.1:c.3879T>A	XP_011533420.1:p.Ile1293=
XM_011535119.1:c.3831T>A	XP_011533421.1:p.Ile1277=
XM_011535120.1:c.3600T>A	XP_011533422.1:p.Ile1200=
XM_011535121.1:c.3501T>A	XP_011533423.1:p.Ile1167=
XM_011535122.1:c.2682T>A	XP_011533424.1:p.Ile894=
XR_941601.1:n.4233T>A
XR_941602.1:n.4233T>A
XR_941603.1:n.4233T>A
XR_941604.1:n.4233T>A
NM_001330578.1:c.3780T>A	NP_001317507.1:p.Ile1260=
NM_001330579.1:c.3762T>A	NP_001317508.1:p.Ile1254=
XM_005266424.4:c.3918T>A	XP_005266481.1:p.Ile1306=
XM_005266430.4:c.4014T>A	XP_005266487.1:p.Ile1338=
XM_005266431.4:c.3978T>A	XP_005266488.1:p.Ile1326=
XM_006719837.3:c.3918T>A	XP_006719900.1:p.Ile1306=
XM_011535117.3:c.3918T>A	XP_011533419.1:p.Ile1306=
XM_017020627.1:c.3918T>A	XP_016876116.1:p.Ile1306=
NM_000053.4:c.4014T>A MANE Select	NP_000044.2:p.Ile1338=
NM_001005918.3:c.3393T>A	NP_001005918.1:p.Ile1131=
NM_001330579.2:c.3762T>A	NP_001317508.1:p.Ile1254=
NM_001243182.2:c.3681T>A	NP_001230111.1:p.Ile1227=
NM_001330578.2:c.3780T>A	NP_001317507.1:p.Ile1260=