Canonical Allele Identifier: CA484024434

Gene: ATP7B

Linked Data

• dbSNP Id: rs1957903593
• gnomAD v3: 13-51950127-G-A
• gnomAD v4: 13-51950127-G-A
• MyVariant Identifiers: chr13:g.52524263G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51950127G>A , CM000675.2:g.51950127G>A	GRCh38
NC_000013.10:g.52524263G>A , CM000675.1:g.52524263G>A	GRCh37
NC_000013.9:g.51422264G>A	NCBI36
NG_008806.1:g.66368C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*443C>T	ENSP00000489512.2:n.*443C>T
ENST00000673864.2:c.*1354C>T	ENSP00000501045.2:n.*1354C>T
ENST00000674147.2:c.2124C>T	ENSP00000500964.2:p.Ser708=
ENST00000242839.10:c.2610C>T MANE Select	ENSP00000242839.5:p.Ser870=
ENST00000344297.9:c.2124C>T	ENSP00000342559.5:p.Ser708=
ENST00000400366.6:c.2277C>T	ENSP00000383217.3:p.Ser759=
ENST00000448424.7:c.2358C>T	ENSP00000416738.3:p.Ser786=
ENST00000673772.1:c.2376C>T	ENSP00000501168.1:p.Ser792=
ENST00000674147.1:c.1680C>T	ENSP00000500964.1:p.Ser560=
ENST00000242839.8:c.2610C>T	ENSP00000242839.4:p.Ser870=
ENST00000344297.8:c.2124C>T	ENSP00000342559.5:p.Ser708=
ENST00000400366.5:c.2277C>T	ENSP00000383217.3:p.Ser759=
ENST00000400370.8:c.1320C>T	ENSP00000383221.3:p.Ser440=
ENST00000418097.7:c.2610C>T	ENSP00000393343.2:p.Ser870=
ENST00000448424.6:c.2376C>T	ENSP00000416738.2:p.Ser792=
ENST00000634296.1:c.571C>T
ENST00000634308.1:c.2376C>T	ENSP00000489234.1:p.Ser792=
ENST00000634620.1:n.3408C>T
ENST00000634810.1:n.1955C>T
ENST00000634844.1:c.2466C>T	ENSP00000489398.1:p.Ser822=
ENST00000635406.1:n.212-3649C>T
NM_000053.3:c.2610C>T	NP_000044.2:p.Ser870=
NM_001005918.2:c.2124C>T	NP_001005918.1:p.Ser708=
NM_001243182.1:c.2277C>T	NP_001230111.1:p.Ser759=
XM_005266423.2:c.2514C>T	XP_005266480.1:p.Ser838=
XM_005266424.3:c.2514C>T	XP_005266481.1:p.Ser838=
XM_005266427.2:c.2376C>T	XP_005266484.1:p.Ser792=
XM_005266428.1:c.2358C>T	XP_005266485.1:p.Ser786=
XM_005266430.3:c.2610C>T	XP_005266487.1:p.Ser870=
XM_005266431.2:c.2574C>T	XP_005266488.1:p.Ser858=
XM_005266432.2:c.2124C>T	XP_005266489.1:p.Ser708=
XM_006719837.2:c.2514C>T	XP_006719900.1:p.Ser838=
XM_006719838.1:c.426C>T	XP_006719901.1:p.Ser142=
XM_006719839.1:c.426C>T	XP_006719902.1:p.Ser142=
XM_011535117.1:c.2514C>T	XP_011533419.1:p.Ser838=
XM_011535118.1:c.2610C>T	XP_011533420.1:p.Ser870=
XM_011535119.1:c.2610C>T	XP_011533421.1:p.Ser870=
XM_011535120.1:c.2196C>T	XP_011533422.1:p.Ser732=
XM_011535121.1:c.2610C>T	XP_011533423.1:p.Ser870=
XM_011535122.1:c.1278C>T	XP_011533424.1:p.Ser426=
XR_941601.1:n.2829C>T
XR_941602.1:n.2829C>T
XR_941603.1:n.2829C>T
XR_941604.1:n.2829C>T
NM_001330578.1:c.2376C>T	NP_001317507.1:p.Ser792=
NM_001330579.1:c.2358C>T	NP_001317508.1:p.Ser786=
XM_005266424.4:c.2514C>T	XP_005266481.1:p.Ser838=
XM_005266430.4:c.2610C>T	XP_005266487.1:p.Ser870=
XM_005266431.4:c.2574C>T	XP_005266488.1:p.Ser858=
XM_006719837.3:c.2514C>T	XP_006719900.1:p.Ser838=
XM_011535117.3:c.2514C>T	XP_011533419.1:p.Ser838=
XM_017020627.1:c.2514C>T	XP_016876116.1:p.Ser838=
NM_000053.4:c.2610C>T MANE Select	NP_000044.2:p.Ser870=
NM_001005918.3:c.2124C>T	NP_001005918.1:p.Ser708=
NM_001330579.2:c.2358C>T	NP_001317508.1:p.Ser786=
NM_001243182.2:c.2277C>T	NP_001230111.1:p.Ser759=
NM_001330578.2:c.2376C>T	NP_001317507.1:p.Ser792=