Canonical Allele Identifier: CA6988417
Community Standard Title: NM_000053.4(ATP7B):c.4334C>T (p.Ala1445Val)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51934820G>A , CM000675.2:g.51934820G>A GRCh38
NC_000013.10:g.52508956G>A , CM000675.1:g.52508956G>A GRCh37
NC_000013.9:g.51406957G>A NCBI36
NG_008806.1:g.81675C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.4334C>T MANE Select NP_000044.2:p.Ala1445Val
ENST00000242839.10:c.4334C>T MANE Select ENSP00000242839.5:p.Ala1445Val
NM_000053.3:c.4334C>T NP_000044.2:p.Ala1445Val
NM_001005918.2:c.3713C>T NP_001005918.1:p.Ala1238Val
NM_001005918.3:c.3713C>T NP_001005918.1:p.Ala1238Val
NM_001243182.1:c.4001C>T NP_001230111.1:p.Ala1334Val
NM_001243182.2:c.4001C>T NP_001230111.1:p.Ala1334Val
NM_001330578.1:c.4100C>T NP_001317507.1:p.Ala1367Val
NM_001330578.2:c.4100C>T NP_001317507.1:p.Ala1367Val
NM_001330579.1:c.4082C>T NP_001317508.1:p.Ala1361Val
NM_001330579.2:c.4082C>T NP_001317508.1:p.Ala1361Val
ENST00000242839.8:c.4334C>T ENSP00000242839.4:p.Ala1445Val
ENST00000344297.8:c.3713C>T ENSP00000342559.5:p.Ala1238Val
ENST00000344297.9:c.3713C>T ENSP00000342559.5:p.Ala1238Val
ENST00000400366.5:c.4001C>T ENSP00000383217.3:p.Ala1334Val
ENST00000400366.6:c.4001C>T ENSP00000383217.3:p.Ala1334Val
ENST00000400370.8:c.3044C>T ENSP00000383221.3:p.Ala1015Val
ENST00000418097.7:c.4139C>T ENSP00000393343.2:p.Ala1380Val
ENST00000448424.6:c.4100C>T ENSP00000416738.2:p.Ala1367Val
ENST00000448424.7:c.4082C>T ENSP00000416738.3:p.Ala1361Val
ENST00000634296.1:c.2112C>T
ENST00000634296.2:c.*1984C>T ENSP00000489512.2:n.*1984C>T
ENST00000634308.1:c.*1435C>T ENSP00000489234.1:n.*1435C>T
ENST00000634620.1:n.5078C>T
ENST00000634810.1:n.3679C>T
ENST00000634844.1:c.4190C>T ENSP00000489398.1:p.Ala1397Val
ENST00000673696.1:n.1657C>T
ENST00000673772.1:c.4100C>T ENSP00000501168.1:p.Ala1367Val
ENST00000673864.2:c.*3078C>T ENSP00000501045.2:n.*3078C>T
ENST00000673867.1:n.4473C>T
ENST00000673923.1:n.1200C>T
ENST00000674147.1:c.3269C>T ENSP00000500964.1:p.Ala1090Val
ENST00000674147.2:c.3713C>T ENSP00000500964.2:p.Ala1238Val
XM_005266423.2:c.4238C>T XP_005266480.1:p.Ala1413Val
XM_005266424.3:c.4238C>T XP_005266481.1:p.Ala1413Val
XM_005266424.4:c.4238C>T XP_005266481.1:p.Ala1413Val
XM_005266427.2:c.4100C>T XP_005266484.1:p.Ala1367Val
XM_005266428.1:c.4082C>T XP_005266485.1:p.Ala1361Val
XM_005266430.3:c.4334C>T XP_005266487.1:p.Ala1445Val
XM_005266430.4:c.4334C>T XP_005266487.1:p.Ala1445Val
XM_005266431.2:c.4298C>T XP_005266488.1:p.Ala1433Val
XM_005266431.4:c.4298C>T XP_005266488.1:p.Ala1433Val
XM_005266432.2:c.3848C>T XP_005266489.1:p.Ala1283Val
XM_006719837.2:c.4238C>T XP_006719900.1:p.Ala1413Val
XM_006719837.3:c.4238C>T XP_006719900.1:p.Ala1413Val
XM_006719838.1:c.2150C>T XP_006719901.1:p.Ala717Val
XM_006719839.1:c.1967C>T XP_006719902.1:p.Ala656Val
XM_011535117.1:c.4238C>T XP_011533419.1:p.Ala1413Val
XM_011535117.3:c.4238C>T XP_011533419.1:p.Ala1413Val
XM_011535118.1:c.4199C>T XP_011533420.1:p.Ala1400Val
XM_011535119.1:c.4151C>T XP_011533421.1:p.Ala1384Val
XM_011535120.1:c.3920C>T XP_011533422.1:p.Ala1307Val
XM_011535121.1:c.3821C>T XP_011533423.1:p.Ala1274Val
XM_011535122.1:c.3002C>T XP_011533424.1:p.Ala1001Val
XM_017020627.1:c.4238C>T XP_016876116.1:p.Ala1413Val
XR_941601.1:n.4553C>T
XR_941602.1:n.4553C>T
XR_941603.1:n.4553C>T
XR_941604.1:n.4553C>T