Canonical Allele Identifier: CA483893749

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52513238C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51939102C>A , CM000675.2:g.51939102C>A	GRCh38
NC_000013.10:g.52513238C>A , CM000675.1:g.52513238C>A	GRCh37
NC_000013.9:g.51411239C>A	NCBI36
NG_008806.1:g.77393G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*1298G>T	ENSP00000489512.2:n.*1298G>T
ENST00000673864.2:c.*2392G>T	ENSP00000501045.2:n.*2392G>T
ENST00000674147.2:c.3027G>T	ENSP00000500964.2:p.Val1009=
ENST00000242839.10:c.3648G>T MANE Select	ENSP00000242839.5:p.Val1216=
ENST00000344297.9:c.3027G>T	ENSP00000342559.5:p.Val1009=
ENST00000400366.6:c.3315G>T	ENSP00000383217.3:p.Val1105=
ENST00000448424.7:c.3396G>T	ENSP00000416738.3:p.Val1132=
ENST00000673696.1:n.889G>T
ENST00000673772.1:c.3414G>T	ENSP00000501168.1:p.Val1138=
ENST00000673867.1:n.3787G>T
ENST00000673923.1:n.514G>T
ENST00000674147.1:c.2583G>T	ENSP00000500964.1:p.Val861=
ENST00000242839.8:c.3648G>T	ENSP00000242839.4:p.Val1216=
ENST00000344297.8:c.3027G>T	ENSP00000342559.5:p.Val1009=
ENST00000400366.5:c.3315G>T	ENSP00000383217.3:p.Val1105=
ENST00000400370.8:c.2358G>T	ENSP00000383221.3:p.Val786=
ENST00000418097.7:c.3453G>T	ENSP00000393343.2:p.Val1151=
ENST00000448424.6:c.3414G>T	ENSP00000416738.2:p.Val1138=
ENST00000634296.1:c.1426G>T
ENST00000634308.1:c.*749G>T	ENSP00000489234.1:n.*749G>T
ENST00000634620.1:n.4392G>T
ENST00000634810.1:n.2993G>T
ENST00000634844.1:c.3504G>T	ENSP00000489398.1:p.Val1168=
NM_000053.3:c.3648G>T	NP_000044.2:p.Val1216=
NM_001005918.2:c.3027G>T	NP_001005918.1:p.Val1009=
NM_001243182.1:c.3315G>T	NP_001230111.1:p.Val1105=
XM_005266423.2:c.3552G>T	XP_005266480.1:p.Val1184=
XM_005266424.3:c.3552G>T	XP_005266481.1:p.Val1184=
XM_005266427.2:c.3414G>T	XP_005266484.1:p.Val1138=
XM_005266428.1:c.3396G>T	XP_005266485.1:p.Val1132=
XM_005266430.3:c.3648G>T	XP_005266487.1:p.Val1216=
XM_005266431.2:c.3612G>T	XP_005266488.1:p.Val1204=
XM_005266432.2:c.3162G>T	XP_005266489.1:p.Val1054=
XM_006719837.2:c.3552G>T	XP_006719900.1:p.Val1184=
XM_006719838.1:c.1464G>T	XP_006719901.1:p.Val488=
XM_006719839.1:c.1281G>T	XP_006719902.1:p.Val427=
XM_011535117.1:c.3552G>T	XP_011533419.1:p.Val1184=
XM_011535118.1:c.3513G>T	XP_011533420.1:p.Val1171=
XM_011535119.1:c.3465G>T	XP_011533421.1:p.Val1155=
XM_011535120.1:c.3234G>T	XP_011533422.1:p.Val1078=
XM_011535121.1:c.3135G>T	XP_011533423.1:p.Val1045=
XM_011535122.1:c.2316G>T	XP_011533424.1:p.Val772=
XR_941601.1:n.3867G>T
XR_941602.1:n.3867G>T
XR_941603.1:n.3867G>T
XR_941604.1:n.3867G>T
NM_001330578.1:c.3414G>T	NP_001317507.1:p.Val1138=
NM_001330579.1:c.3396G>T	NP_001317508.1:p.Val1132=
XM_005266424.4:c.3552G>T	XP_005266481.1:p.Val1184=
XM_005266430.4:c.3648G>T	XP_005266487.1:p.Val1216=
XM_005266431.4:c.3612G>T	XP_005266488.1:p.Val1204=
XM_006719837.3:c.3552G>T	XP_006719900.1:p.Val1184=
XM_011535117.3:c.3552G>T	XP_011533419.1:p.Val1184=
XM_017020627.1:c.3552G>T	XP_016876116.1:p.Val1184=
NM_000053.4:c.3648G>T MANE Select	NP_000044.2:p.Val1216=
NM_001005918.3:c.3027G>T	NP_001005918.1:p.Val1009=
NM_001330579.2:c.3396G>T	NP_001317508.1:p.Val1132=
NM_001243182.2:c.3315G>T	NP_001230111.1:p.Val1105=
NM_001330578.2:c.3414G>T	NP_001317507.1:p.Val1138=