Canonical Allele Identifier: CA483894887

Gene: ATP7B

Linked Data

• gnomAD v4: 13-51946326-G-A
• MyVariant Identifiers: chr13:g.52520462G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946326G>A , CM000675.2:g.51946326G>A	GRCh38
NC_000013.10:g.52520462G>A , CM000675.1:g.52520462G>A	GRCh37
NC_000013.9:g.51418463G>A	NCBI36
NG_008806.1:g.70169C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*851C>T	ENSP00000489512.2:n.*851C>T
ENST00000673864.2:c.*1762C>T	ENSP00000501045.2:n.*1762C>T
ENST00000674147.2:c.2397C>T	ENSP00000500964.2:p.Gly799=
ENST00000242839.10:c.3018C>T MANE Select	ENSP00000242839.5:p.Gly1006=
ENST00000344297.9:c.2397C>T	ENSP00000342559.5:p.Gly799=
ENST00000400366.6:c.2685C>T	ENSP00000383217.3:p.Gly895=
ENST00000448424.7:c.2766C>T	ENSP00000416738.3:p.Gly922=
ENST00000673772.1:c.2784C>T	ENSP00000501168.1:p.Gly928=
ENST00000673867.1:n.1165C>T
ENST00000674126.1:n.3381C>T
ENST00000674147.1:c.1953C>T	ENSP00000500964.1:p.Gly651=
ENST00000242839.8:c.3018C>T	ENSP00000242839.4:p.Gly1006=
ENST00000344297.8:c.2397C>T	ENSP00000342559.5:p.Gly799=
ENST00000400366.5:c.2685C>T	ENSP00000383217.3:p.Gly895=
ENST00000400370.8:c.1728C>T	ENSP00000383221.3:p.Gly576=
ENST00000418097.7:c.2866-2035C>T	ENSP00000393343.2:n.2866-2035C>T
ENST00000448424.6:c.2784C>T	ENSP00000416738.2:p.Gly928=
ENST00000466629.1:n.238C>T
ENST00000634296.1:c.979C>T
ENST00000634308.1:c.*119C>T	ENSP00000489234.1:n.*119C>T
ENST00000634620.1:n.3762C>T
ENST00000634810.1:n.2363C>T
ENST00000634844.1:c.2874C>T	ENSP00000489398.1:p.Gly958=
ENST00000635406.1:n.364C>T
NM_000053.3:c.3018C>T	NP_000044.2:p.Gly1006=
NM_001005918.2:c.2397C>T	NP_001005918.1:p.Gly799=
NM_001243182.1:c.2685C>T	NP_001230111.1:p.Gly895=
XM_005266423.2:c.2922C>T	XP_005266480.1:p.Gly974=
XM_005266424.3:c.2922C>T	XP_005266481.1:p.Gly974=
XM_005266427.2:c.2784C>T	XP_005266484.1:p.Gly928=
XM_005266428.1:c.2766C>T	XP_005266485.1:p.Gly922=
XM_005266430.3:c.3018C>T	XP_005266487.1:p.Gly1006=
XM_005266431.2:c.2982C>T	XP_005266488.1:p.Gly994=
XM_005266432.2:c.2532C>T	XP_005266489.1:p.Gly844=
XM_006719837.2:c.2922C>T	XP_006719900.1:p.Gly974=
XM_006719838.1:c.834C>T	XP_006719901.1:p.Gly278=
XM_006719839.1:c.834C>T	XP_006719902.1:p.Gly278=
XM_011535117.1:c.2922C>T	XP_011533419.1:p.Gly974=
XM_011535118.1:c.2883C>T	XP_011533420.1:p.Gly961=
XM_011535119.1:c.3018C>T	XP_011533421.1:p.Gly1006=
XM_011535120.1:c.2604C>T	XP_011533422.1:p.Gly868=
XM_011535121.1:c.2730+3681C>T	XP_011533423.1:n.2730+3681C>T
XM_011535122.1:c.1686C>T	XP_011533424.1:p.Gly562=
XR_941601.1:n.3237C>T
XR_941602.1:n.3237C>T
XR_941603.1:n.3237C>T
XR_941604.1:n.3237C>T
NM_001330578.1:c.2784C>T	NP_001317507.1:p.Gly928=
NM_001330579.1:c.2766C>T	NP_001317508.1:p.Gly922=
XM_005266424.4:c.2922C>T	XP_005266481.1:p.Gly974=
XM_005266430.4:c.3018C>T	XP_005266487.1:p.Gly1006=
XM_005266431.4:c.2982C>T	XP_005266488.1:p.Gly994=
XM_006719837.3:c.2922C>T	XP_006719900.1:p.Gly974=
XM_011535117.3:c.2922C>T	XP_011533419.1:p.Gly974=
XM_017020627.1:c.2922C>T	XP_016876116.1:p.Gly974=
NM_000053.4:c.3018C>T MANE Select	NP_000044.2:p.Gly1006=
NM_001005918.3:c.2397C>T	NP_001005918.1:p.Gly799=
NM_001330579.2:c.2766C>T	NP_001317508.1:p.Gly922=
NM_001243182.2:c.2685C>T	NP_001230111.1:p.Gly895=
NM_001330578.2:c.2784C>T	NP_001317507.1:p.Gly928=