Canonical Allele Identifier: CA483894171

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515338A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941202A>T , CM000675.2:g.51941202A>T	GRCh38
NC_000013.10:g.52515338A>T , CM000675.1:g.52515338A>T	GRCh37
NC_000013.9:g.51413339A>T	NCBI36
NG_008806.1:g.75293T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1085T>A	ENSP00000489512.2:n.*1085T>A
ENST00000673864.2:c.*2179T>A	ENSP00000501045.2:n.*2179T>A
ENST00000674147.2:c.2814T>A	ENSP00000500964.2:p.Ser938=
ENST00000242839.10:c.3435T>A MANE Select	ENSP00000242839.5:p.Ser1145=
ENST00000344297.9:c.2814T>A	ENSP00000342559.5:p.Ser938=
ENST00000400366.6:c.3102T>A	ENSP00000383217.3:p.Ser1034=
ENST00000448424.7:c.3183T>A	ENSP00000416738.3:p.Ser1061=
ENST00000673772.1:c.3201T>A	ENSP00000501168.1:p.Ser1067=
ENST00000673867.1:n.3574T>A
ENST00000674126.1:n.3798T>A
ENST00000674147.1:c.2370T>A	ENSP00000500964.1:p.Ser790=
ENST00000242839.8:c.3435T>A	ENSP00000242839.4:p.Ser1145=
ENST00000344297.8:c.2814T>A	ENSP00000342559.5:p.Ser938=
ENST00000400366.5:c.3102T>A	ENSP00000383217.3:p.Ser1034=
ENST00000400370.8:c.2145T>A	ENSP00000383221.3:p.Ser715=
ENST00000418097.7:c.3240T>A	ENSP00000393343.2:p.Ser1080=
ENST00000448424.6:c.3201T>A	ENSP00000416738.2:p.Ser1067=
ENST00000634296.1:c.1213T>A
ENST00000634308.1:c.*536T>A	ENSP00000489234.1:n.*536T>A
ENST00000634620.1:n.4179T>A
ENST00000634810.1:n.2780T>A
ENST00000634844.1:c.3291T>A	ENSP00000489398.1:p.Ser1097=
NM_000053.3:c.3435T>A	NP_000044.2:p.Ser1145=
NM_001005918.2:c.2814T>A	NP_001005918.1:p.Ser938=
NM_001243182.1:c.3102T>A	NP_001230111.1:p.Ser1034=
XM_005266423.2:c.3339T>A	XP_005266480.1:p.Ser1113=
XM_005266424.3:c.3339T>A	XP_005266481.1:p.Ser1113=
XM_005266427.2:c.3201T>A	XP_005266484.1:p.Ser1067=
XM_005266428.1:c.3183T>A	XP_005266485.1:p.Ser1061=
XM_005266430.3:c.3435T>A	XP_005266487.1:p.Ser1145=
XM_005266431.2:c.3399T>A	XP_005266488.1:p.Ser1133=
XM_005266432.2:c.2949T>A	XP_005266489.1:p.Ser983=
XM_006719837.2:c.3339T>A	XP_006719900.1:p.Ser1113=
XM_006719838.1:c.1251T>A	XP_006719901.1:p.Ser417=
XM_006719839.1:c.1068T>A	XP_006719902.1:p.Ser356=
XM_011535117.1:c.3339T>A	XP_011533419.1:p.Ser1113=
XM_011535118.1:c.3300T>A	XP_011533420.1:p.Ser1100=
XM_011535119.1:c.3252T>A	XP_011533421.1:p.Ser1084=
XM_011535120.1:c.3021T>A	XP_011533422.1:p.Ser1007=
XM_011535121.1:c.2922T>A	XP_011533423.1:p.Ser974=
XM_011535122.1:c.2103T>A	XP_011533424.1:p.Ser701=
XR_941601.1:n.3654T>A
XR_941602.1:n.3654T>A
XR_941603.1:n.3654T>A
XR_941604.1:n.3654T>A
NM_001330578.1:c.3201T>A	NP_001317507.1:p.Ser1067=
NM_001330579.1:c.3183T>A	NP_001317508.1:p.Ser1061=
XM_005266424.4:c.3339T>A	XP_005266481.1:p.Ser1113=
XM_005266430.4:c.3435T>A	XP_005266487.1:p.Ser1145=
XM_005266431.4:c.3399T>A	XP_005266488.1:p.Ser1133=
XM_006719837.3:c.3339T>A	XP_006719900.1:p.Ser1113=
XM_011535117.3:c.3339T>A	XP_011533419.1:p.Ser1113=
XM_017020627.1:c.3339T>A	XP_016876116.1:p.Ser1113=
NM_000053.4:c.3435T>A MANE Select	NP_000044.2:p.Ser1145=
NM_001005918.3:c.2814T>A	NP_001005918.1:p.Ser938=
NM_001330579.2:c.3183T>A	NP_001317508.1:p.Ser1061=
NM_001243182.2:c.3102T>A	NP_001230111.1:p.Ser1034=
NM_001330578.2:c.3201T>A	NP_001317507.1:p.Ser1067=