Canonical Allele Identifier: CA483893956

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2856044
• ClinVar RCV Id: RCV003609003
• dbSNP Id: rs2138781016
• gnomAD v4: 13-51941145-A-G
• MyVariant Identifiers: chr13:g.52515281A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941145A>G , CM000675.2:g.51941145A>G	GRCh38
NC_000013.10:g.52515281A>G , CM000675.1:g.52515281A>G	GRCh37
NC_000013.9:g.51413282A>G	NCBI36
NG_008806.1:g.75350T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1142T>C	ENSP00000489512.2:n.*1142T>C
ENST00000673864.2:c.*2236T>C	ENSP00000501045.2:n.*2236T>C
ENST00000674147.2:c.2871T>C	ENSP00000500964.2:p.Asp957=
ENST00000242839.10:c.3492T>C MANE Select	ENSP00000242839.5:p.Asp1164=
ENST00000344297.9:c.2871T>C	ENSP00000342559.5:p.Asp957=
ENST00000400366.6:c.3159T>C	ENSP00000383217.3:p.Asp1053=
ENST00000448424.7:c.3240T>C	ENSP00000416738.3:p.Asp1080=
ENST00000673772.1:c.3258T>C	ENSP00000501168.1:p.Asp1086=
ENST00000673867.1:n.3631T>C
ENST00000674126.1:n.3855T>C
ENST00000674147.1:c.2427T>C	ENSP00000500964.1:p.Asp809=
ENST00000242839.8:c.3492T>C	ENSP00000242839.4:p.Asp1164=
ENST00000344297.8:c.2871T>C	ENSP00000342559.5:p.Asp957=
ENST00000400366.5:c.3159T>C	ENSP00000383217.3:p.Asp1053=
ENST00000400370.8:c.2202T>C	ENSP00000383221.3:p.Asp734=
ENST00000418097.7:c.3297T>C	ENSP00000393343.2:p.Asp1099=
ENST00000448424.6:c.3258T>C	ENSP00000416738.2:p.Asp1086=
ENST00000634296.1:c.1270T>C
ENST00000634308.1:c.*593T>C	ENSP00000489234.1:n.*593T>C
ENST00000634620.1:n.4236T>C
ENST00000634810.1:n.2837T>C
ENST00000634844.1:c.3348T>C	ENSP00000489398.1:p.Asp1116=
NM_000053.3:c.3492T>C	NP_000044.2:p.Asp1164=
NM_001005918.2:c.2871T>C	NP_001005918.1:p.Asp957=
NM_001243182.1:c.3159T>C	NP_001230111.1:p.Asp1053=
XM_005266423.2:c.3396T>C	XP_005266480.1:p.Asp1132=
XM_005266424.3:c.3396T>C	XP_005266481.1:p.Asp1132=
XM_005266427.2:c.3258T>C	XP_005266484.1:p.Asp1086=
XM_005266428.1:c.3240T>C	XP_005266485.1:p.Asp1080=
XM_005266430.3:c.3492T>C	XP_005266487.1:p.Asp1164=
XM_005266431.2:c.3456T>C	XP_005266488.1:p.Asp1152=
XM_005266432.2:c.3006T>C	XP_005266489.1:p.Asp1002=
XM_006719837.2:c.3396T>C	XP_006719900.1:p.Asp1132=
XM_006719838.1:c.1308T>C	XP_006719901.1:p.Asp436=
XM_006719839.1:c.1125T>C	XP_006719902.1:p.Asp375=
XM_011535117.1:c.3396T>C	XP_011533419.1:p.Asp1132=
XM_011535118.1:c.3357T>C	XP_011533420.1:p.Asp1119=
XM_011535119.1:c.3309T>C	XP_011533421.1:p.Asp1103=
XM_011535120.1:c.3078T>C	XP_011533422.1:p.Asp1026=
XM_011535121.1:c.2979T>C	XP_011533423.1:p.Asp993=
XM_011535122.1:c.2160T>C	XP_011533424.1:p.Asp720=
XR_941601.1:n.3711T>C
XR_941602.1:n.3711T>C
XR_941603.1:n.3711T>C
XR_941604.1:n.3711T>C
NM_001330578.1:c.3258T>C	NP_001317507.1:p.Asp1086=
NM_001330579.1:c.3240T>C	NP_001317508.1:p.Asp1080=
XM_005266424.4:c.3396T>C	XP_005266481.1:p.Asp1132=
XM_005266430.4:c.3492T>C	XP_005266487.1:p.Asp1164=
XM_005266431.4:c.3456T>C	XP_005266488.1:p.Asp1152=
XM_006719837.3:c.3396T>C	XP_006719900.1:p.Asp1132=
XM_011535117.3:c.3396T>C	XP_011533419.1:p.Asp1132=
XM_017020627.1:c.3396T>C	XP_016876116.1:p.Asp1132=
NM_000053.4:c.3492T>C MANE Select	NP_000044.2:p.Asp1164=
NM_001005918.3:c.2871T>C	NP_001005918.1:p.Asp957=
NM_001330579.2:c.3240T>C	NP_001317508.1:p.Asp1080=
NM_001243182.2:c.3159T>C	NP_001230111.1:p.Asp1053=
NM_001330578.2:c.3258T>C	NP_001317507.1:p.Asp1086=