Canonical Allele Identifier: CA388032228

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52520508G>T (hg19) ; chr13:g.51946372G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51946372G>T , CM000675.2:g.51946372G>T	GRCh38
NC_000013.10:g.52520508G>T , CM000675.1:g.52520508G>T	GRCh37
NC_000013.9:g.51418509G>T	NCBI36
NG_008806.1:g.70123C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*805C>A	ENSP00000489512.2:n.*805C>A
ENST00000673864.2:c.*1716C>A	ENSP00000501045.2:n.*1716C>A
ENST00000674147.2:c.2351C>A	ENSP00000500964.2:p.Thr784Lys
ENST00000242839.10:c.2972C>A MANE Select	ENSP00000242839.5:p.Thr991Lys
ENST00000344297.9:c.2351C>A	ENSP00000342559.5:p.Thr784Lys
ENST00000400366.6:c.2639C>A	ENSP00000383217.3:p.Thr880Lys
ENST00000448424.7:c.2720C>A	ENSP00000416738.3:p.Thr907Lys
ENST00000673772.1:c.2738C>A	ENSP00000501168.1:p.Thr913Lys
ENST00000673867.1:n.1119C>A
ENST00000674126.1:n.3335C>A
ENST00000674147.1:c.1907C>A	ENSP00000500964.1:p.Thr636Lys
ENST00000242839.8:c.2972C>A	ENSP00000242839.4:p.Thr991Lys
ENST00000344297.8:c.2351C>A	ENSP00000342559.5:p.Thr784Lys
ENST00000400366.5:c.2639C>A	ENSP00000383217.3:p.Thr880Lys
ENST00000400370.8:c.1682C>A	ENSP00000383221.3:p.Thr561Lys
ENST00000418097.7:c.2866-2081C>A	ENSP00000393343.2:n.2866-2081C>A
ENST00000448424.6:c.2738C>A	ENSP00000416738.2:p.Thr913Lys
ENST00000466629.1:n.192C>A
ENST00000634296.1:c.933C>A
ENST00000634308.1:c.*73C>A	ENSP00000489234.1:n.*73C>A
ENST00000634620.1:n.3716C>A
ENST00000634810.1:n.2317C>A
ENST00000634844.1:c.2828C>A	ENSP00000489398.1:p.Thr943Lys
ENST00000635406.1:n.318C>A
NM_000053.3:c.2972C>A	NP_000044.2:p.Thr991Lys
NM_001005918.2:c.2351C>A	NP_001005918.1:p.Thr784Lys
NM_001243182.1:c.2639C>A	NP_001230111.1:p.Thr880Lys
XM_005266423.2:c.2876C>A	XP_005266480.1:p.Thr959Lys
XM_005266424.3:c.2876C>A	XP_005266481.1:p.Thr959Lys
XM_005266427.2:c.2738C>A	XP_005266484.1:p.Thr913Lys
XM_005266428.1:c.2720C>A	XP_005266485.1:p.Thr907Lys
XM_005266430.3:c.2972C>A	XP_005266487.1:p.Thr991Lys
XM_005266431.2:c.2936C>A	XP_005266488.1:p.Thr979Lys
XM_005266432.2:c.2486C>A	XP_005266489.1:p.Thr829Lys
XM_006719837.2:c.2876C>A	XP_006719900.1:p.Thr959Lys
XM_006719838.1:c.788C>A	XP_006719901.1:p.Thr263Lys
XM_006719839.1:c.788C>A	XP_006719902.1:p.Thr263Lys
XM_011535117.1:c.2876C>A	XP_011533419.1:p.Thr959Lys
XM_011535118.1:c.2837C>A	XP_011533420.1:p.Thr946Lys
XM_011535119.1:c.2972C>A	XP_011533421.1:p.Thr991Lys
XM_011535120.1:c.2558C>A	XP_011533422.1:p.Thr853Lys
XM_011535121.1:c.2730+3635C>A	XP_011533423.1:n.2730+3635C>A
XM_011535122.1:c.1640C>A	XP_011533424.1:p.Thr547Lys
XR_941601.1:n.3191C>A
XR_941602.1:n.3191C>A
XR_941603.1:n.3191C>A
XR_941604.1:n.3191C>A
NM_001330578.1:c.2738C>A	NP_001317507.1:p.Thr913Lys
NM_001330579.1:c.2720C>A	NP_001317508.1:p.Thr907Lys
XM_005266424.4:c.2876C>A	XP_005266481.1:p.Thr959Lys
XM_005266430.4:c.2972C>A	XP_005266487.1:p.Thr991Lys
XM_005266431.4:c.2936C>A	XP_005266488.1:p.Thr979Lys
XM_006719837.3:c.2876C>A	XP_006719900.1:p.Thr959Lys
XM_011535117.3:c.2876C>A	XP_011533419.1:p.Thr959Lys
XM_017020627.1:c.2876C>A	XP_016876116.1:p.Thr959Lys
NM_000053.4:c.2972C>A MANE Select	NP_000044.2:p.Thr991Lys
NM_001005918.3:c.2351C>A	NP_001005918.1:p.Thr784Lys
NM_001330579.2:c.2720C>A	NP_001317508.1:p.Thr907Lys
NM_001243182.2:c.2639C>A	NP_001230111.1:p.Thr880Lys
NM_001330578.2:c.2738C>A	NP_001317507.1:p.Thr913Lys