Canonical Allele Identifier: CA6988551

Gene: ATP7B

Linked Data

• dbSNP Id: rs771238708
• ExAC: 13:52511633 T / G
• gnomAD v2: 13-52511633-T-G
• MyVariant Identifiers: chr13:g.52511633T>G (hg19) ; chr13:g.51937497T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.51937497T>G , CM000675.2:g.51937497T>G	GRCh38
NC_000013.10:g.52511633T>G , CM000675.1:g.52511633T>G	GRCh37
NC_000013.9:g.51409634T>G	NCBI36
NG_008806.1:g.78998A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000634296.2:c.*1532A>C	ENSP00000489512.2:n.*1532A>C
ENST00000673864.2:c.*2626A>C	ENSP00000501045.2:n.*2626A>C
ENST00000674147.2:c.3261A>C	ENSP00000500964.2:p.Ala1087=
ENST00000242839.10:c.3882A>C MANE Select	ENSP00000242839.5:p.Ala1294=
ENST00000344297.9:c.3261A>C	ENSP00000342559.5:p.Ala1087=
ENST00000400366.6:c.3549A>C	ENSP00000383217.3:p.Ala1183=
ENST00000448424.7:c.3630A>C	ENSP00000416738.3:p.Ala1210=
ENST00000673696.1:n.1123A>C
ENST00000673772.1:c.3648A>C	ENSP00000501168.1:p.Ala1216=
ENST00000673867.1:n.4021A>C
ENST00000673923.1:n.748A>C
ENST00000674147.1:c.2817A>C	ENSP00000500964.1:p.Ala939=
ENST00000242839.8:c.3882A>C	ENSP00000242839.4:p.Ala1294=
ENST00000344297.8:c.3261A>C	ENSP00000342559.5:p.Ala1087=
ENST00000400366.5:c.3549A>C	ENSP00000383217.3:p.Ala1183=
ENST00000400370.8:c.2592A>C	ENSP00000383221.3:p.Ala864=
ENST00000418097.7:c.3687A>C	ENSP00000393343.2:p.Ala1229=
ENST00000448424.6:c.3648A>C	ENSP00000416738.2:p.Ala1216=
ENST00000634296.1:c.1660A>C
ENST00000634308.1:c.*983A>C	ENSP00000489234.1:n.*983A>C
ENST00000634620.1:n.4626A>C
ENST00000634810.1:n.3227A>C
ENST00000634844.1:c.3738A>C	ENSP00000489398.1:p.Ala1246=
NM_000053.3:c.3882A>C	NP_000044.2:p.Ala1294=
NM_001005918.2:c.3261A>C	NP_001005918.1:p.Ala1087=
NM_001243182.1:c.3549A>C	NP_001230111.1:p.Ala1183=
XM_005266423.2:c.3786A>C	XP_005266480.1:p.Ala1262=
XM_005266424.3:c.3786A>C	XP_005266481.1:p.Ala1262=
XM_005266427.2:c.3648A>C	XP_005266484.1:p.Ala1216=
XM_005266428.1:c.3630A>C	XP_005266485.1:p.Ala1210=
XM_005266430.3:c.3882A>C	XP_005266487.1:p.Ala1294=
XM_005266431.2:c.3846A>C	XP_005266488.1:p.Ala1282=
XM_005266432.2:c.3396A>C	XP_005266489.1:p.Ala1132=
XM_006719837.2:c.3786A>C	XP_006719900.1:p.Ala1262=
XM_006719838.1:c.1698A>C	XP_006719901.1:p.Ala566=
XM_006719839.1:c.1515A>C	XP_006719902.1:p.Ala505=
XM_011535117.1:c.3786A>C	XP_011533419.1:p.Ala1262=
XM_011535118.1:c.3747A>C	XP_011533420.1:p.Ala1249=
XM_011535119.1:c.3699A>C	XP_011533421.1:p.Ala1233=
XM_011535120.1:c.3468A>C	XP_011533422.1:p.Ala1156=
XM_011535121.1:c.3369A>C	XP_011533423.1:p.Ala1123=
XM_011535122.1:c.2550A>C	XP_011533424.1:p.Ala850=
XR_941601.1:n.4101A>C
XR_941602.1:n.4101A>C
XR_941603.1:n.4101A>C
XR_941604.1:n.4101A>C
NM_001330578.1:c.3648A>C	NP_001317507.1:p.Ala1216=
NM_001330579.1:c.3630A>C	NP_001317508.1:p.Ala1210=
XM_005266424.4:c.3786A>C	XP_005266481.1:p.Ala1262=
XM_005266430.4:c.3882A>C	XP_005266487.1:p.Ala1294=
XM_005266431.4:c.3846A>C	XP_005266488.1:p.Ala1282=
XM_006719837.3:c.3786A>C	XP_006719900.1:p.Ala1262=
XM_011535117.3:c.3786A>C	XP_011533419.1:p.Ala1262=
XM_017020627.1:c.3786A>C	XP_016876116.1:p.Ala1262=
NM_000053.4:c.3882A>C MANE Select	NP_000044.2:p.Ala1294=
NM_001005918.3:c.3261A>C	NP_001005918.1:p.Ala1087=
NM_001330579.2:c.3630A>C	NP_001317508.1:p.Ala1210=
NM_001243182.2:c.3549A>C	NP_001230111.1:p.Ala1183=
NM_001330578.2:c.3648A>C	NP_001317507.1:p.Ala1216=