Canonical Allele Identifier: CA6988454
Community Standard Title: NM_000053.4(ATP7B):c.4215C>T (p.Gly1405=)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51934939G>A , CM000675.2:g.51934939G>A GRCh38
NC_000013.10:g.52509075G>A , CM000675.1:g.52509075G>A GRCh37
NC_000013.9:g.51407076G>A NCBI36
NG_008806.1:g.81556C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.4215C>T MANE Select NP_000044.2:p.Gly1405=
ENST00000242839.10:c.4215C>T MANE Select ENSP00000242839.5:p.Gly1405=
NM_000053.3:c.4215C>T NP_000044.2:p.Gly1405=
NM_001005918.2:c.3594C>T NP_001005918.1:p.Gly1198=
NM_001005918.3:c.3594C>T NP_001005918.1:p.Gly1198=
NM_001243182.1:c.3882C>T NP_001230111.1:p.Gly1294=
NM_001243182.2:c.3882C>T NP_001230111.1:p.Gly1294=
NM_001330578.1:c.3981C>T NP_001317507.1:p.Gly1327=
NM_001330578.2:c.3981C>T NP_001317507.1:p.Gly1327=
NM_001330579.1:c.3963C>T NP_001317508.1:p.Gly1321=
NM_001330579.2:c.3963C>T NP_001317508.1:p.Gly1321=
ENST00000242839.8:c.4215C>T ENSP00000242839.4:p.Gly1405=
ENST00000344297.8:c.3594C>T ENSP00000342559.5:p.Gly1198=
ENST00000344297.9:c.3594C>T ENSP00000342559.5:p.Gly1198=
ENST00000400366.5:c.3882C>T ENSP00000383217.3:p.Gly1294=
ENST00000400366.6:c.3882C>T ENSP00000383217.3:p.Gly1294=
ENST00000400370.8:c.2925C>T ENSP00000383221.3:p.Gly975=
ENST00000418097.7:c.4020C>T ENSP00000393343.2:p.Gly1340=
ENST00000448424.6:c.3981C>T ENSP00000416738.2:p.Gly1327=
ENST00000448424.7:c.3963C>T ENSP00000416738.3:p.Gly1321=
ENST00000634296.1:c.1993C>T
ENST00000634296.2:c.*1865C>T ENSP00000489512.2:n.*1865C>T
ENST00000634308.1:c.*1316C>T ENSP00000489234.1:n.*1316C>T
ENST00000634620.1:n.4959C>T
ENST00000634810.1:n.3560C>T
ENST00000634844.1:c.4071C>T ENSP00000489398.1:p.Gly1357=
ENST00000673696.1:n.1538C>T
ENST00000673772.1:c.3981C>T ENSP00000501168.1:p.Gly1327=
ENST00000673864.2:c.*2959C>T ENSP00000501045.2:n.*2959C>T
ENST00000673867.1:n.4354C>T
ENST00000673923.1:n.1081C>T
ENST00000674147.1:c.3150C>T ENSP00000500964.1:p.Gly1050=
ENST00000674147.2:c.3594C>T ENSP00000500964.2:p.Gly1198=
XM_005266423.2:c.4119C>T XP_005266480.1:p.Gly1373=
XM_005266424.3:c.4119C>T XP_005266481.1:p.Gly1373=
XM_005266424.4:c.4119C>T XP_005266481.1:p.Gly1373=
XM_005266427.2:c.3981C>T XP_005266484.1:p.Gly1327=
XM_005266428.1:c.3963C>T XP_005266485.1:p.Gly1321=
XM_005266430.3:c.4215C>T XP_005266487.1:p.Gly1405=
XM_005266430.4:c.4215C>T XP_005266487.1:p.Gly1405=
XM_005266431.2:c.4179C>T XP_005266488.1:p.Gly1393=
XM_005266431.4:c.4179C>T XP_005266488.1:p.Gly1393=
XM_005266432.2:c.3729C>T XP_005266489.1:p.Gly1243=
XM_006719837.2:c.4119C>T XP_006719900.1:p.Gly1373=
XM_006719837.3:c.4119C>T XP_006719900.1:p.Gly1373=
XM_006719838.1:c.2031C>T XP_006719901.1:p.Gly677=
XM_006719839.1:c.1848C>T XP_006719902.1:p.Gly616=
XM_011535117.1:c.4119C>T XP_011533419.1:p.Gly1373=
XM_011535117.3:c.4119C>T XP_011533419.1:p.Gly1373=
XM_011535118.1:c.4080C>T XP_011533420.1:p.Gly1360=
XM_011535119.1:c.4032C>T XP_011533421.1:p.Gly1344=
XM_011535120.1:c.3801C>T XP_011533422.1:p.Gly1267=
XM_011535121.1:c.3702C>T XP_011533423.1:p.Gly1234=
XM_011535122.1:c.2883C>T XP_011533424.1:p.Gly961=
XM_017020627.1:c.4119C>T XP_016876116.1:p.Gly1373=
XR_941601.1:n.4434C>T
XR_941602.1:n.4434C>T
XR_941603.1:n.4434C>T
XR_941604.1:n.4434C>T