Canonical Allele Identifier: CA483894890

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51946332-C-T
• MyVariant Identifiers: chr13:g.52520468C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946332C>T , CM000675.2:g.51946332C>T	GRCh38
NC_000013.10:g.52520468C>T , CM000675.1:g.52520468C>T	GRCh37
NC_000013.9:g.51418469C>T	NCBI36
NG_008806.1:g.70163G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*845G>A	ENSP00000489512.2:n.*845G>A
ENST00000673864.2:c.*1756G>A	ENSP00000501045.2:n.*1756G>A
ENST00000674147.2:c.2391G>A	ENSP00000500964.2:p.Gln797=
ENST00000242839.10:c.3012G>A MANE Select	ENSP00000242839.5:p.Gln1004=
ENST00000344297.9:c.2391G>A	ENSP00000342559.5:p.Gln797=
ENST00000400366.6:c.2679G>A	ENSP00000383217.3:p.Gln893=
ENST00000448424.7:c.2760G>A	ENSP00000416738.3:p.Gln920=
ENST00000673772.1:c.2778G>A	ENSP00000501168.1:p.Gln926=
ENST00000673867.1:n.1159G>A
ENST00000674126.1:n.3375G>A
ENST00000674147.1:c.1947G>A	ENSP00000500964.1:p.Gln649=
ENST00000242839.8:c.3012G>A	ENSP00000242839.4:p.Gln1004=
ENST00000344297.8:c.2391G>A	ENSP00000342559.5:p.Gln797=
ENST00000400366.5:c.2679G>A	ENSP00000383217.3:p.Gln893=
ENST00000400370.8:c.1722G>A	ENSP00000383221.3:p.Gln574=
ENST00000418097.7:c.2866-2041G>A	ENSP00000393343.2:n.2866-2041G>A
ENST00000448424.6:c.2778G>A	ENSP00000416738.2:p.Gln926=
ENST00000466629.1:n.232G>A
ENST00000634296.1:c.973G>A
ENST00000634308.1:c.*113G>A	ENSP00000489234.1:n.*113G>A
ENST00000634620.1:n.3756G>A
ENST00000634810.1:n.2357G>A
ENST00000634844.1:c.2868G>A	ENSP00000489398.1:p.Gln956=
ENST00000635406.1:n.358G>A
NM_000053.3:c.3012G>A	NP_000044.2:p.Gln1004=
NM_001005918.2:c.2391G>A	NP_001005918.1:p.Gln797=
NM_001243182.1:c.2679G>A	NP_001230111.1:p.Gln893=
XM_005266423.2:c.2916G>A	XP_005266480.1:p.Gln972=
XM_005266424.3:c.2916G>A	XP_005266481.1:p.Gln972=
XM_005266427.2:c.2778G>A	XP_005266484.1:p.Gln926=
XM_005266428.1:c.2760G>A	XP_005266485.1:p.Gln920=
XM_005266430.3:c.3012G>A	XP_005266487.1:p.Gln1004=
XM_005266431.2:c.2976G>A	XP_005266488.1:p.Gln992=
XM_005266432.2:c.2526G>A	XP_005266489.1:p.Gln842=
XM_006719837.2:c.2916G>A	XP_006719900.1:p.Gln972=
XM_006719838.1:c.828G>A	XP_006719901.1:p.Gln276=
XM_006719839.1:c.828G>A	XP_006719902.1:p.Gln276=
XM_011535117.1:c.2916G>A	XP_011533419.1:p.Gln972=
XM_011535118.1:c.2877G>A	XP_011533420.1:p.Gln959=
XM_011535119.1:c.3012G>A	XP_011533421.1:p.Gln1004=
XM_011535120.1:c.2598G>A	XP_011533422.1:p.Gln866=
XM_011535121.1:c.2730+3675G>A	XP_011533423.1:n.2730+3675G>A
XM_011535122.1:c.1680G>A	XP_011533424.1:p.Gln560=
XR_941601.1:n.3231G>A
XR_941602.1:n.3231G>A
XR_941603.1:n.3231G>A
XR_941604.1:n.3231G>A
NM_001330578.1:c.2778G>A	NP_001317507.1:p.Gln926=
NM_001330579.1:c.2760G>A	NP_001317508.1:p.Gln920=
XM_005266424.4:c.2916G>A	XP_005266481.1:p.Gln972=
XM_005266430.4:c.3012G>A	XP_005266487.1:p.Gln1004=
XM_005266431.4:c.2976G>A	XP_005266488.1:p.Gln992=
XM_006719837.3:c.2916G>A	XP_006719900.1:p.Gln972=
XM_011535117.3:c.2916G>A	XP_011533419.1:p.Gln972=
XM_017020627.1:c.2916G>A	XP_016876116.1:p.Gln972=
NM_000053.4:c.3012G>A MANE Select	NP_000044.2:p.Gln1004=
NM_001005918.3:c.2391G>A	NP_001005918.1:p.Gln797=
NM_001330579.2:c.2760G>A	NP_001317508.1:p.Gln920=
NM_001243182.2:c.2679G>A	NP_001230111.1:p.Gln893=
NM_001330578.2:c.2778G>A	NP_001317507.1:p.Gln926=