Canonical Allele Identifier: CA484024240

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511491G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937355G>A , CM000675.2:g.51937355G>A	GRCh38
NC_000013.10:g.52511491G>A , CM000675.1:g.52511491G>A	GRCh37
NC_000013.9:g.51409492G>A	NCBI36
NG_008806.1:g.79140C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1592C>T	ENSP00000489512.2:n.*1592C>T
ENST00000673864.2:c.*2686C>T	ENSP00000501045.2:n.*2686C>T
ENST00000674147.2:c.3321C>T	ENSP00000500964.2:p.Ser1107=
ENST00000242839.10:c.3942C>T MANE Select	ENSP00000242839.5:p.Ser1314=
ENST00000344297.9:c.3321C>T	ENSP00000342559.5:p.Ser1107=
ENST00000400366.6:c.3609C>T	ENSP00000383217.3:p.Ser1203=
ENST00000448424.7:c.3690C>T	ENSP00000416738.3:p.Ser1230=
ENST00000673696.1:n.1265C>T
ENST00000673772.1:c.3708C>T	ENSP00000501168.1:p.Ser1236=
ENST00000673867.1:n.4081C>T
ENST00000673923.1:n.808C>T
ENST00000674147.1:c.2877C>T	ENSP00000500964.1:p.Ser959=
ENST00000242839.8:c.3942C>T	ENSP00000242839.4:p.Ser1314=
ENST00000344297.8:c.3321C>T	ENSP00000342559.5:p.Ser1107=
ENST00000400366.5:c.3609C>T	ENSP00000383217.3:p.Ser1203=
ENST00000400370.8:c.2652C>T	ENSP00000383221.3:p.Ser884=
ENST00000418097.7:c.3747C>T	ENSP00000393343.2:p.Ser1249=
ENST00000448424.6:c.3708C>T	ENSP00000416738.2:p.Ser1236=
ENST00000634296.1:c.1720C>T
ENST00000634308.1:c.*1043C>T	ENSP00000489234.1:n.*1043C>T
ENST00000634620.1:n.4686C>T
ENST00000634810.1:n.3287C>T
ENST00000634844.1:c.3798C>T	ENSP00000489398.1:p.Ser1266=
NM_000053.3:c.3942C>T	NP_000044.2:p.Ser1314=
NM_001005918.2:c.3321C>T	NP_001005918.1:p.Ser1107=
NM_001243182.1:c.3609C>T	NP_001230111.1:p.Ser1203=
XM_005266423.2:c.3846C>T	XP_005266480.1:p.Ser1282=
XM_005266424.3:c.3846C>T	XP_005266481.1:p.Ser1282=
XM_005266427.2:c.3708C>T	XP_005266484.1:p.Ser1236=
XM_005266428.1:c.3690C>T	XP_005266485.1:p.Ser1230=
XM_005266430.3:c.3942C>T	XP_005266487.1:p.Ser1314=
XM_005266431.2:c.3906C>T	XP_005266488.1:p.Ser1302=
XM_005266432.2:c.3456C>T	XP_005266489.1:p.Ser1152=
XM_006719837.2:c.3846C>T	XP_006719900.1:p.Ser1282=
XM_006719838.1:c.1758C>T	XP_006719901.1:p.Ser586=
XM_006719839.1:c.1575C>T	XP_006719902.1:p.Ser525=
XM_011535117.1:c.3846C>T	XP_011533419.1:p.Ser1282=
XM_011535118.1:c.3807C>T	XP_011533420.1:p.Ser1269=
XM_011535119.1:c.3759C>T	XP_011533421.1:p.Ser1253=
XM_011535120.1:c.3528C>T	XP_011533422.1:p.Ser1176=
XM_011535121.1:c.3429C>T	XP_011533423.1:p.Ser1143=
XM_011535122.1:c.2610C>T	XP_011533424.1:p.Ser870=
XR_941601.1:n.4161C>T
XR_941602.1:n.4161C>T
XR_941603.1:n.4161C>T
XR_941604.1:n.4161C>T
NM_001330578.1:c.3708C>T	NP_001317507.1:p.Ser1236=
NM_001330579.1:c.3690C>T	NP_001317508.1:p.Ser1230=
XM_005266424.4:c.3846C>T	XP_005266481.1:p.Ser1282=
XM_005266430.4:c.3942C>T	XP_005266487.1:p.Ser1314=
XM_005266431.4:c.3906C>T	XP_005266488.1:p.Ser1302=
XM_006719837.3:c.3846C>T	XP_006719900.1:p.Ser1282=
XM_011535117.3:c.3846C>T	XP_011533419.1:p.Ser1282=
XM_017020627.1:c.3846C>T	XP_016876116.1:p.Ser1282=
NM_000053.4:c.3942C>T MANE Select	NP_000044.2:p.Ser1314=
NM_001005918.3:c.3321C>T	NP_001005918.1:p.Ser1107=
NM_001330579.2:c.3690C>T	NP_001317508.1:p.Ser1230=
NM_001243182.2:c.3609C>T	NP_001230111.1:p.Ser1203=
NM_001330578.2:c.3708C>T	NP_001317507.1:p.Ser1236=