Canonical Allele Identifier: CA388025951

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52515228A>G (hg19) ; chr13:g.51941092A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941092A>G , CM000675.2:g.51941092A>G	GRCh38
NC_000013.10:g.52515228A>G , CM000675.1:g.52515228A>G	GRCh37
NC_000013.9:g.51413229A>G	NCBI36
NG_008806.1:g.75403T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1195T>C	ENSP00000489512.2:n.*1195T>C
ENST00000673864.2:c.*2289T>C	ENSP00000501045.2:n.*2289T>C
ENST00000674147.2:c.2924T>C	ENSP00000500964.2:p.Val975Ala
ENST00000242839.10:c.3545T>C MANE Select	ENSP00000242839.5:p.Val1182Ala
ENST00000344297.9:c.2924T>C	ENSP00000342559.5:p.Val975Ala
ENST00000400366.6:c.3212T>C	ENSP00000383217.3:p.Val1071Ala
ENST00000448424.7:c.3293T>C	ENSP00000416738.3:p.Val1098Ala
ENST00000673772.1:c.3311T>C	ENSP00000501168.1:p.Val1104Ala
ENST00000673867.1:n.3684T>C
ENST00000674126.1:n.3908T>C
ENST00000674147.1:c.2480T>C	ENSP00000500964.1:p.Val827Ala
ENST00000242839.8:c.3545T>C	ENSP00000242839.4:p.Val1182Ala
ENST00000344297.8:c.2924T>C	ENSP00000342559.5:p.Val975Ala
ENST00000400366.5:c.3212T>C	ENSP00000383217.3:p.Val1071Ala
ENST00000400370.8:c.2255T>C	ENSP00000383221.3:p.Val752Ala
ENST00000418097.7:c.3350T>C	ENSP00000393343.2:p.Val1117Ala
ENST00000448424.6:c.3311T>C	ENSP00000416738.2:p.Val1104Ala
ENST00000634296.1:c.1323T>C
ENST00000634308.1:c.*646T>C	ENSP00000489234.1:n.*646T>C
ENST00000634620.1:n.4289T>C
ENST00000634810.1:n.2890T>C
ENST00000634844.1:c.3401T>C	ENSP00000489398.1:p.Val1134Ala
NM_000053.3:c.3545T>C	NP_000044.2:p.Val1182Ala
NM_001005918.2:c.2924T>C	NP_001005918.1:p.Val975Ala
NM_001243182.1:c.3212T>C	NP_001230111.1:p.Val1071Ala
XM_005266423.2:c.3449T>C	XP_005266480.1:p.Val1150Ala
XM_005266424.3:c.3449T>C	XP_005266481.1:p.Val1150Ala
XM_005266427.2:c.3311T>C	XP_005266484.1:p.Val1104Ala
XM_005266428.1:c.3293T>C	XP_005266485.1:p.Val1098Ala
XM_005266430.3:c.3545T>C	XP_005266487.1:p.Val1182Ala
XM_005266431.2:c.3509T>C	XP_005266488.1:p.Val1170Ala
XM_005266432.2:c.3059T>C	XP_005266489.1:p.Val1020Ala
XM_006719837.2:c.3449T>C	XP_006719900.1:p.Val1150Ala
XM_006719838.1:c.1361T>C	XP_006719901.1:p.Val454Ala
XM_006719839.1:c.1178T>C	XP_006719902.1:p.Val393Ala
XM_011535117.1:c.3449T>C	XP_011533419.1:p.Val1150Ala
XM_011535118.1:c.3410T>C	XP_011533420.1:p.Val1137Ala
XM_011535119.1:c.3362T>C	XP_011533421.1:p.Val1121Ala
XM_011535120.1:c.3131T>C	XP_011533422.1:p.Val1044Ala
XM_011535121.1:c.3032T>C	XP_011533423.1:p.Val1011Ala
XM_011535122.1:c.2213T>C	XP_011533424.1:p.Val738Ala
XR_941601.1:n.3764T>C
XR_941602.1:n.3764T>C
XR_941603.1:n.3764T>C
XR_941604.1:n.3764T>C
NM_001330578.1:c.3311T>C	NP_001317507.1:p.Val1104Ala
NM_001330579.1:c.3293T>C	NP_001317508.1:p.Val1098Ala
XM_005266424.4:c.3449T>C	XP_005266481.1:p.Val1150Ala
XM_005266430.4:c.3545T>C	XP_005266487.1:p.Val1182Ala
XM_005266431.4:c.3509T>C	XP_005266488.1:p.Val1170Ala
XM_006719837.3:c.3449T>C	XP_006719900.1:p.Val1150Ala
XM_011535117.3:c.3449T>C	XP_011533419.1:p.Val1150Ala
XM_017020627.1:c.3449T>C	XP_016876116.1:p.Val1150Ala
NM_000053.4:c.3545T>C MANE Select	NP_000044.2:p.Val1182Ala
NM_001005918.3:c.2924T>C	NP_001005918.1:p.Val975Ala
NM_001330579.2:c.3293T>C	NP_001317508.1:p.Val1098Ala
NM_001243182.2:c.3212T>C	NP_001230111.1:p.Val1071Ala
NM_001330578.2:c.3311T>C	NP_001317507.1:p.Val1104Ala