Canonical Allele Identifier: CA484024248

Gene: ATP7B

Linked Data

• MyVariant Identifiers: chr13:g.52511503G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937367G>A , CM000675.2:g.51937367G>A	GRCh38
NC_000013.10:g.52511503G>A , CM000675.1:g.52511503G>A	GRCh37
NC_000013.9:g.51409504G>A	NCBI36
NG_008806.1:g.79128C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1580C>T	ENSP00000489512.2:n.*1580C>T
ENST00000673864.2:c.*2674C>T	ENSP00000501045.2:n.*2674C>T
ENST00000674147.2:c.3309C>T	ENSP00000500964.2:p.Ser1103=
ENST00000242839.10:c.3930C>T MANE Select	ENSP00000242839.5:p.Ser1310=
ENST00000344297.9:c.3309C>T	ENSP00000342559.5:p.Ser1103=
ENST00000400366.6:c.3597C>T	ENSP00000383217.3:p.Ser1199=
ENST00000448424.7:c.3678C>T	ENSP00000416738.3:p.Ser1226=
ENST00000673696.1:n.1253C>T
ENST00000673772.1:c.3696C>T	ENSP00000501168.1:p.Ser1232=
ENST00000673867.1:n.4069C>T
ENST00000673923.1:n.796C>T
ENST00000674147.1:c.2865C>T	ENSP00000500964.1:p.Ser955=
ENST00000242839.8:c.3930C>T	ENSP00000242839.4:p.Ser1310=
ENST00000344297.8:c.3309C>T	ENSP00000342559.5:p.Ser1103=
ENST00000400366.5:c.3597C>T	ENSP00000383217.3:p.Ser1199=
ENST00000400370.8:c.2640C>T	ENSP00000383221.3:p.Ser880=
ENST00000418097.7:c.3735C>T	ENSP00000393343.2:p.Ser1245=
ENST00000448424.6:c.3696C>T	ENSP00000416738.2:p.Ser1232=
ENST00000634296.1:c.1708C>T
ENST00000634308.1:c.*1031C>T	ENSP00000489234.1:n.*1031C>T
ENST00000634620.1:n.4674C>T
ENST00000634810.1:n.3275C>T
ENST00000634844.1:c.3786C>T	ENSP00000489398.1:p.Ser1262=
NM_000053.3:c.3930C>T	NP_000044.2:p.Ser1310=
NM_001005918.2:c.3309C>T	NP_001005918.1:p.Ser1103=
NM_001243182.1:c.3597C>T	NP_001230111.1:p.Ser1199=
XM_005266423.2:c.3834C>T	XP_005266480.1:p.Ser1278=
XM_005266424.3:c.3834C>T	XP_005266481.1:p.Ser1278=
XM_005266427.2:c.3696C>T	XP_005266484.1:p.Ser1232=
XM_005266428.1:c.3678C>T	XP_005266485.1:p.Ser1226=
XM_005266430.3:c.3930C>T	XP_005266487.1:p.Ser1310=
XM_005266431.2:c.3894C>T	XP_005266488.1:p.Ser1298=
XM_005266432.2:c.3444C>T	XP_005266489.1:p.Ser1148=
XM_006719837.2:c.3834C>T	XP_006719900.1:p.Ser1278=
XM_006719838.1:c.1746C>T	XP_006719901.1:p.Ser582=
XM_006719839.1:c.1563C>T	XP_006719902.1:p.Ser521=
XM_011535117.1:c.3834C>T	XP_011533419.1:p.Ser1278=
XM_011535118.1:c.3795C>T	XP_011533420.1:p.Ser1265=
XM_011535119.1:c.3747C>T	XP_011533421.1:p.Ser1249=
XM_011535120.1:c.3516C>T	XP_011533422.1:p.Ser1172=
XM_011535121.1:c.3417C>T	XP_011533423.1:p.Ser1139=
XM_011535122.1:c.2598C>T	XP_011533424.1:p.Ser866=
XR_941601.1:n.4149C>T
XR_941602.1:n.4149C>T
XR_941603.1:n.4149C>T
XR_941604.1:n.4149C>T
NM_001330578.1:c.3696C>T	NP_001317507.1:p.Ser1232=
NM_001330579.1:c.3678C>T	NP_001317508.1:p.Ser1226=
XM_005266424.4:c.3834C>T	XP_005266481.1:p.Ser1278=
XM_005266430.4:c.3930C>T	XP_005266487.1:p.Ser1310=
XM_005266431.4:c.3894C>T	XP_005266488.1:p.Ser1298=
XM_006719837.3:c.3834C>T	XP_006719900.1:p.Ser1278=
XM_011535117.3:c.3834C>T	XP_011533419.1:p.Ser1278=
XM_017020627.1:c.3834C>T	XP_016876116.1:p.Ser1278=
NM_000053.4:c.3930C>T MANE Select	NP_000044.2:p.Ser1310=
NM_001005918.3:c.3309C>T	NP_001005918.1:p.Ser1103=
NM_001330579.2:c.3678C>T	NP_001317508.1:p.Ser1226=
NM_001243182.2:c.3597C>T	NP_001230111.1:p.Ser1199=
NM_001330578.2:c.3696C>T	NP_001317507.1:p.Ser1232=