Canonical Allele Identifier: CA483894718

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52518350C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51944214C>A , CM000675.2:g.51944214C>A	GRCh38
NC_000013.10:g.52518350C>A , CM000675.1:g.52518350C>A	GRCh37
NC_000013.9:g.51416351C>A	NCBI36
NG_008806.1:g.72281G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634296.2:c.*894-1660G>T	ENSP00000489512.2:n.*894-1660G>T
ENST00000673864.2:c.*1882G>T	ENSP00000501045.2:n.*1882G>T
ENST00000674147.2:c.2517G>T	ENSP00000500964.2:p.Gly839=
ENST00000242839.10:c.3138G>T MANE Select	ENSP00000242839.5:p.Gly1046=
ENST00000344297.9:c.2517G>T	ENSP00000342559.5:p.Gly839=
ENST00000400366.6:c.2805G>T	ENSP00000383217.3:p.Gly935=
ENST00000448424.7:c.2886G>T	ENSP00000416738.3:p.Gly962=
ENST00000673772.1:c.2904G>T	ENSP00000501168.1:p.Gly968=
ENST00000673867.1:n.3277G>T
ENST00000674126.1:n.3501G>T
ENST00000674147.1:c.2073G>T	ENSP00000500964.1:p.Gly691=
ENST00000242839.8:c.3138G>T	ENSP00000242839.4:p.Gly1046=
ENST00000344297.8:c.2517G>T	ENSP00000342559.5:p.Gly839=
ENST00000400366.5:c.2805G>T	ENSP00000383217.3:p.Gly935=
ENST00000400370.8:c.1848G>T	ENSP00000383221.3:p.Gly616=
ENST00000418097.7:c.2943G>T	ENSP00000393343.2:p.Gly981=
ENST00000448424.6:c.2904G>T	ENSP00000416738.2:p.Gly968=
ENST00000466629.1:n.358G>T
ENST00000634296.1:c.1022-1660G>T
ENST00000634308.1:c.*239G>T	ENSP00000489234.1:n.*239G>T
ENST00000634620.1:n.3882G>T
ENST00000634810.1:n.2483G>T
ENST00000634844.1:c.2994G>T	ENSP00000489398.1:p.Gly998=
ENST00000635406.1:n.484G>T
NM_000053.3:c.3138G>T	NP_000044.2:p.Gly1046=
NM_001005918.2:c.2517G>T	NP_001005918.1:p.Gly839=
NM_001243182.1:c.2805G>T	NP_001230111.1:p.Gly935=
XM_005266423.2:c.3042G>T	XP_005266480.1:p.Gly1014=
XM_005266424.3:c.3042G>T	XP_005266481.1:p.Gly1014=
XM_005266427.2:c.2904G>T	XP_005266484.1:p.Gly968=
XM_005266428.1:c.2886G>T	XP_005266485.1:p.Gly962=
XM_005266430.3:c.3138G>T	XP_005266487.1:p.Gly1046=
XM_005266431.2:c.3102G>T	XP_005266488.1:p.Gly1034=
XM_005266432.2:c.2652G>T	XP_005266489.1:p.Gly884=
XM_006719837.2:c.3042G>T	XP_006719900.1:p.Gly1014=
XM_006719838.1:c.954G>T	XP_006719901.1:p.Gly318=
XM_006719839.1:c.877-1660G>T	XP_006719902.1:n.877-1660G>T
XM_011535117.1:c.3042G>T	XP_011533419.1:p.Gly1014=
XM_011535118.1:c.3003G>T	XP_011533420.1:p.Gly1001=
XM_011535119.1:c.3061-1660G>T	XP_011533421.1:n.3061-1660G>T
XM_011535120.1:c.2724G>T	XP_011533422.1:p.Gly908=
XM_011535121.1:c.2731-1660G>T	XP_011533423.1:n.2731-1660G>T
XM_011535122.1:c.1806G>T	XP_011533424.1:p.Gly602=
XR_941601.1:n.3357G>T
XR_941602.1:n.3357G>T
XR_941603.1:n.3357G>T
XR_941604.1:n.3357G>T
NM_001330578.1:c.2904G>T	NP_001317507.1:p.Gly968=
NM_001330579.1:c.2886G>T	NP_001317508.1:p.Gly962=
XM_005266424.4:c.3042G>T	XP_005266481.1:p.Gly1014=
XM_005266430.4:c.3138G>T	XP_005266487.1:p.Gly1046=
XM_005266431.4:c.3102G>T	XP_005266488.1:p.Gly1034=
XM_006719837.3:c.3042G>T	XP_006719900.1:p.Gly1014=
XM_011535117.3:c.3042G>T	XP_011533419.1:p.Gly1014=
XM_017020627.1:c.3042G>T	XP_016876116.1:p.Gly1014=
NM_000053.4:c.3138G>T MANE Select	NP_000044.2:p.Gly1046=
NM_001005918.3:c.2517G>T	NP_001005918.1:p.Gly839=
NM_001330579.2:c.2886G>T	NP_001317508.1:p.Gly962=
NM_001243182.2:c.2805G>T	NP_001230111.1:p.Gly935=
NM_001330578.2:c.2904G>T	NP_001317507.1:p.Gly968=