Canonical Allele Identifier: CA483893938

Gene: ATP7B

Linked Data

• ClinVar Variation Id: 2109660
• ClinVar RCV Id: RCV003038477
• gnomAD v4: 13-51941103-T-C
• MyVariant Identifiers: chr13:g.52515239T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51941103T>C , CM000675.2:g.51941103T>C	GRCh38
NC_000013.10:g.52515239T>C , CM000675.1:g.52515239T>C	GRCh37
NC_000013.9:g.51413240T>C	NCBI36
NG_008806.1:g.75392A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1184A>G	ENSP00000489512.2:n.*1184A>G
ENST00000673864.2:c.*2278A>G	ENSP00000501045.2:n.*2278A>G
ENST00000674147.2:c.2913A>G	ENSP00000500964.2:p.Thr971=
ENST00000242839.10:c.3534A>G MANE Select	ENSP00000242839.5:p.Thr1178=
ENST00000344297.9:c.2913A>G	ENSP00000342559.5:p.Thr971=
ENST00000400366.6:c.3201A>G	ENSP00000383217.3:p.Thr1067=
ENST00000448424.7:c.3282A>G	ENSP00000416738.3:p.Thr1094=
ENST00000673772.1:c.3300A>G	ENSP00000501168.1:p.Thr1100=
ENST00000673867.1:n.3673A>G
ENST00000674126.1:n.3897A>G
ENST00000674147.1:c.2469A>G	ENSP00000500964.1:p.Thr823=
ENST00000242839.8:c.3534A>G	ENSP00000242839.4:p.Thr1178=
ENST00000344297.8:c.2913A>G	ENSP00000342559.5:p.Thr971=
ENST00000400366.5:c.3201A>G	ENSP00000383217.3:p.Thr1067=
ENST00000400370.8:c.2244A>G	ENSP00000383221.3:p.Thr748=
ENST00000418097.7:c.3339A>G	ENSP00000393343.2:p.Thr1113=
ENST00000448424.6:c.3300A>G	ENSP00000416738.2:p.Thr1100=
ENST00000634296.1:c.1312A>G
ENST00000634308.1:c.*635A>G	ENSP00000489234.1:n.*635A>G
ENST00000634620.1:n.4278A>G
ENST00000634810.1:n.2879A>G
ENST00000634844.1:c.3390A>G	ENSP00000489398.1:p.Thr1130=
NM_000053.3:c.3534A>G	NP_000044.2:p.Thr1178=
NM_001005918.2:c.2913A>G	NP_001005918.1:p.Thr971=
NM_001243182.1:c.3201A>G	NP_001230111.1:p.Thr1067=
XM_005266423.2:c.3438A>G	XP_005266480.1:p.Thr1146=
XM_005266424.3:c.3438A>G	XP_005266481.1:p.Thr1146=
XM_005266427.2:c.3300A>G	XP_005266484.1:p.Thr1100=
XM_005266428.1:c.3282A>G	XP_005266485.1:p.Thr1094=
XM_005266430.3:c.3534A>G	XP_005266487.1:p.Thr1178=
XM_005266431.2:c.3498A>G	XP_005266488.1:p.Thr1166=
XM_005266432.2:c.3048A>G	XP_005266489.1:p.Thr1016=
XM_006719837.2:c.3438A>G	XP_006719900.1:p.Thr1146=
XM_006719838.1:c.1350A>G	XP_006719901.1:p.Thr450=
XM_006719839.1:c.1167A>G	XP_006719902.1:p.Thr389=
XM_011535117.1:c.3438A>G	XP_011533419.1:p.Thr1146=
XM_011535118.1:c.3399A>G	XP_011533420.1:p.Thr1133=
XM_011535119.1:c.3351A>G	XP_011533421.1:p.Thr1117=
XM_011535120.1:c.3120A>G	XP_011533422.1:p.Thr1040=
XM_011535121.1:c.3021A>G	XP_011533423.1:p.Thr1007=
XM_011535122.1:c.2202A>G	XP_011533424.1:p.Thr734=
XR_941601.1:n.3753A>G
XR_941602.1:n.3753A>G
XR_941603.1:n.3753A>G
XR_941604.1:n.3753A>G
NM_001330578.1:c.3300A>G	NP_001317507.1:p.Thr1100=
NM_001330579.1:c.3282A>G	NP_001317508.1:p.Thr1094=
XM_005266424.4:c.3438A>G	XP_005266481.1:p.Thr1146=
XM_005266430.4:c.3534A>G	XP_005266487.1:p.Thr1178=
XM_005266431.4:c.3498A>G	XP_005266488.1:p.Thr1166=
XM_006719837.3:c.3438A>G	XP_006719900.1:p.Thr1146=
XM_011535117.3:c.3438A>G	XP_011533419.1:p.Thr1146=
XM_017020627.1:c.3438A>G	XP_016876116.1:p.Thr1146=
NM_000053.4:c.3534A>G MANE Select	NP_000044.2:p.Thr1178=
NM_001005918.3:c.2913A>G	NP_001005918.1:p.Thr971=
NM_001330579.2:c.3282A>G	NP_001317508.1:p.Thr1094=
NM_001243182.2:c.3201A>G	NP_001230111.1:p.Thr1067=
NM_001330578.2:c.3300A>G	NP_001317507.1:p.Thr1100=