Canonical Allele Identifier: CA6988895

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 632658
• ClinVar RCV Id: RCV000779808 ; RCV000871679
• dbSNP Id: rs762782389
• ExAC: 13:52523804 G / A
• gnomAD v2: 13-52523804-G-A
• gnomAD v3: 13-51949668-G-A
• gnomAD v4: 13-51949668-G-A
• MyVariant Identifiers: chr13:g.52523804G>A (hg19) ; chr13:g.51949668G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51949668G>A , CM000675.2:g.51949668G>A	GRCh38
NC_000013.10:g.52523804G>A , CM000675.1:g.52523804G>A	GRCh37
NC_000013.9:g.51421805G>A	NCBI36
NG_008806.1:g.66827C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*692C>T	ENSP00000489512.2:n.*692C>T
ENST00000673864.2:c.*1603C>T	ENSP00000501045.2:n.*1603C>T
ENST00000674147.2:c.2244+339C>T	ENSP00000500964.2:n.2244+339C>T
ENST00000242839.10:c.2859C>T MANE Select	ENSP00000242839.5:p.Tyr953=
ENST00000344297.9:c.2244+339C>T	ENSP00000342559.5:n.2244+339C>T
ENST00000400366.6:c.2526C>T	ENSP00000383217.3:p.Tyr842=
ENST00000448424.7:c.2607C>T	ENSP00000416738.3:p.Tyr869=
ENST00000673772.1:c.2625C>T	ENSP00000501168.1:p.Tyr875=
ENST00000674126.1:n.39C>T
ENST00000674147.1:c.1800+339C>T	ENSP00000500964.1:n.1800+339C>T
ENST00000242839.8:c.2859C>T	ENSP00000242839.4:p.Tyr953=
ENST00000344297.8:c.2244+339C>T	ENSP00000342559.5:n.2244+339C>T
ENST00000400366.5:c.2526C>T	ENSP00000383217.3:p.Tyr842=
ENST00000400370.8:c.1569C>T	ENSP00000383221.3:p.Tyr523=
ENST00000418097.7:c.2859C>T	ENSP00000393343.2:p.Tyr953=
ENST00000448424.6:c.2625C>T	ENSP00000416738.2:p.Tyr875=
ENST00000634296.1:c.820C>T
ENST00000634308.1:c.2625C>T	ENSP00000489234.1:p.Tyr875=
ENST00000634620.1:n.3609+48C>T
ENST00000634810.1:n.2204C>T
ENST00000634844.1:c.2715C>T	ENSP00000489398.1:p.Tyr905=
ENST00000635406.1:n.212-3190C>T
NM_000053.3:c.2859C>T	NP_000044.2:p.Tyr953=
NM_001005918.2:c.2244+339C>T	NP_001005918.1:n.2244+339C>T
NM_001243182.1:c.2526C>T	NP_001230111.1:p.Tyr842=
XM_005266423.2:c.2763C>T	XP_005266480.1:p.Tyr921=
XM_005266424.3:c.2763C>T	XP_005266481.1:p.Tyr921=
XM_005266427.2:c.2625C>T	XP_005266484.1:p.Tyr875=
XM_005266428.1:c.2607C>T	XP_005266485.1:p.Tyr869=
XM_005266430.3:c.2859C>T	XP_005266487.1:p.Tyr953=
XM_005266431.2:c.2823C>T	XP_005266488.1:p.Tyr941=
XM_005266432.2:c.2373C>T	XP_005266489.1:p.Tyr791=
XM_006719837.2:c.2763C>T	XP_006719900.1:p.Tyr921=
XM_006719838.1:c.675C>T	XP_006719901.1:p.Tyr225=
XM_006719839.1:c.675C>T	XP_006719902.1:p.Tyr225=
XM_011535117.1:c.2763C>T	XP_011533419.1:p.Tyr921=
XM_011535118.1:c.2730+339C>T	XP_011533420.1:n.2730+339C>T
XM_011535119.1:c.2859C>T	XP_011533421.1:p.Tyr953=
XM_011535120.1:c.2445C>T	XP_011533422.1:p.Tyr815=
XM_011535121.1:c.2730+339C>T	XP_011533423.1:n.2730+339C>T
XM_011535122.1:c.1527C>T	XP_011533424.1:p.Tyr509=
XR_941601.1:n.3078C>T
XR_941602.1:n.3078C>T
XR_941603.1:n.3078C>T
XR_941604.1:n.3078C>T
NM_001330578.1:c.2625C>T	NP_001317507.1:p.Tyr875=
NM_001330579.1:c.2607C>T	NP_001317508.1:p.Tyr869=
XM_005266424.4:c.2763C>T	XP_005266481.1:p.Tyr921=
XM_005266430.4:c.2859C>T	XP_005266487.1:p.Tyr953=
XM_005266431.4:c.2823C>T	XP_005266488.1:p.Tyr941=
XM_006719837.3:c.2763C>T	XP_006719900.1:p.Tyr921=
XM_011535117.3:c.2763C>T	XP_011533419.1:p.Tyr921=
XM_017020627.1:c.2763C>T	XP_016876116.1:p.Tyr921=
NM_000053.4:c.2859C>T MANE Select	NP_000044.2:p.Tyr953=
NM_001005918.3:c.2244+339C>T	NP_001005918.1:n.2244+339C>T
NM_001330579.2:c.2607C>T	NP_001317508.1:p.Tyr869=
NM_001243182.2:c.2526C>T	NP_001230111.1:p.Tyr842=
NM_001330578.2:c.2625C>T	NP_001317507.1:p.Tyr875=