Canonical Allele Identifier: CA484024251

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51937370-A-G
• MyVariant Identifiers: chr13:g.52511506A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937370A>G , CM000675.2:g.51937370A>G	GRCh38
NC_000013.10:g.52511506A>G , CM000675.1:g.52511506A>G	GRCh37
NC_000013.9:g.51409507A>G	NCBI36
NG_008806.1:g.79125T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1577T>C	ENSP00000489512.2:n.*1577T>C
ENST00000673864.2:c.*2671T>C	ENSP00000501045.2:n.*2671T>C
ENST00000674147.2:c.3306T>C	ENSP00000500964.2:p.Ala1102=
ENST00000242839.10:c.3927T>C MANE Select	ENSP00000242839.5:p.Ala1309=
ENST00000344297.9:c.3306T>C	ENSP00000342559.5:p.Ala1102=
ENST00000400366.6:c.3594T>C	ENSP00000383217.3:p.Ala1198=
ENST00000448424.7:c.3675T>C	ENSP00000416738.3:p.Ala1225=
ENST00000673696.1:n.1250T>C
ENST00000673772.1:c.3693T>C	ENSP00000501168.1:p.Ala1231=
ENST00000673867.1:n.4066T>C
ENST00000673923.1:n.793T>C
ENST00000674147.1:c.2862T>C	ENSP00000500964.1:p.Ala954=
ENST00000242839.8:c.3927T>C	ENSP00000242839.4:p.Ala1309=
ENST00000344297.8:c.3306T>C	ENSP00000342559.5:p.Ala1102=
ENST00000400366.5:c.3594T>C	ENSP00000383217.3:p.Ala1198=
ENST00000400370.8:c.2637T>C	ENSP00000383221.3:p.Ala879=
ENST00000418097.7:c.3732T>C	ENSP00000393343.2:p.Ala1244=
ENST00000448424.6:c.3693T>C	ENSP00000416738.2:p.Ala1231=
ENST00000634296.1:c.1705T>C
ENST00000634308.1:c.*1028T>C	ENSP00000489234.1:n.*1028T>C
ENST00000634620.1:n.4671T>C
ENST00000634810.1:n.3272T>C
ENST00000634844.1:c.3783T>C	ENSP00000489398.1:p.Ala1261=
NM_000053.3:c.3927T>C	NP_000044.2:p.Ala1309=
NM_001005918.2:c.3306T>C	NP_001005918.1:p.Ala1102=
NM_001243182.1:c.3594T>C	NP_001230111.1:p.Ala1198=
XM_005266423.2:c.3831T>C	XP_005266480.1:p.Ala1277=
XM_005266424.3:c.3831T>C	XP_005266481.1:p.Ala1277=
XM_005266427.2:c.3693T>C	XP_005266484.1:p.Ala1231=
XM_005266428.1:c.3675T>C	XP_005266485.1:p.Ala1225=
XM_005266430.3:c.3927T>C	XP_005266487.1:p.Ala1309=
XM_005266431.2:c.3891T>C	XP_005266488.1:p.Ala1297=
XM_005266432.2:c.3441T>C	XP_005266489.1:p.Ala1147=
XM_006719837.2:c.3831T>C	XP_006719900.1:p.Ala1277=
XM_006719838.1:c.1743T>C	XP_006719901.1:p.Ala581=
XM_006719839.1:c.1560T>C	XP_006719902.1:p.Ala520=
XM_011535117.1:c.3831T>C	XP_011533419.1:p.Ala1277=
XM_011535118.1:c.3792T>C	XP_011533420.1:p.Ala1264=
XM_011535119.1:c.3744T>C	XP_011533421.1:p.Ala1248=
XM_011535120.1:c.3513T>C	XP_011533422.1:p.Ala1171=
XM_011535121.1:c.3414T>C	XP_011533423.1:p.Ala1138=
XM_011535122.1:c.2595T>C	XP_011533424.1:p.Ala865=
XR_941601.1:n.4146T>C
XR_941602.1:n.4146T>C
XR_941603.1:n.4146T>C
XR_941604.1:n.4146T>C
NM_001330578.1:c.3693T>C	NP_001317507.1:p.Ala1231=
NM_001330579.1:c.3675T>C	NP_001317508.1:p.Ala1225=
XM_005266424.4:c.3831T>C	XP_005266481.1:p.Ala1277=
XM_005266430.4:c.3927T>C	XP_005266487.1:p.Ala1309=
XM_005266431.4:c.3891T>C	XP_005266488.1:p.Ala1297=
XM_006719837.3:c.3831T>C	XP_006719900.1:p.Ala1277=
XM_011535117.3:c.3831T>C	XP_011533419.1:p.Ala1277=
XM_017020627.1:c.3831T>C	XP_016876116.1:p.Ala1277=
NM_000053.4:c.3927T>C MANE Select	NP_000044.2:p.Ala1309=
NM_001005918.3:c.3306T>C	NP_001005918.1:p.Ala1102=
NM_001330579.2:c.3675T>C	NP_001317508.1:p.Ala1225=
NM_001243182.2:c.3594T>C	NP_001230111.1:p.Ala1198=
NM_001330578.2:c.3693T>C	NP_001317507.1:p.Ala1231=