Canonical Allele Identifier: CA388019625
Community Standard Title: NM_000053.4(ATP7B):c.4195C>T (p.Gln1399Ter)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51934959G>A , CM000675.2:g.51934959G>A GRCh38
NC_000013.10:g.52509095G>A , CM000675.1:g.52509095G>A GRCh37
NC_000013.9:g.51407096G>A NCBI36
NG_008806.1:g.81536C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.4195C>T MANE Select NP_000044.2:p.Gln1399Ter
ENST00000242839.10:c.4195C>T MANE Select ENSP00000242839.5:p.Gln1399Ter
NM_000053.3:c.4195C>T NP_000044.2:p.Gln1399Ter
NM_001005918.2:c.3574C>T NP_001005918.1:p.Gln1192Ter
NM_001005918.3:c.3574C>T NP_001005918.1:p.Gln1192Ter
NM_001243182.1:c.3862C>T NP_001230111.1:p.Gln1288Ter
NM_001243182.2:c.3862C>T NP_001230111.1:p.Gln1288Ter
NM_001330578.1:c.3961C>T NP_001317507.1:p.Gln1321Ter
NM_001330578.2:c.3961C>T NP_001317507.1:p.Gln1321Ter
NM_001330579.1:c.3943C>T NP_001317508.1:p.Gln1315Ter
NM_001330579.2:c.3943C>T NP_001317508.1:p.Gln1315Ter
ENST00000242839.8:c.4195C>T ENSP00000242839.4:p.Gln1399Ter
ENST00000344297.8:c.3574C>T ENSP00000342559.5:p.Gln1192Ter
ENST00000344297.9:c.3574C>T ENSP00000342559.5:p.Gln1192Ter
ENST00000400366.5:c.3862C>T ENSP00000383217.3:p.Gln1288Ter
ENST00000400366.6:c.3862C>T ENSP00000383217.3:p.Gln1288Ter
ENST00000400370.8:c.2905C>T ENSP00000383221.3:p.Gln969Ter
ENST00000418097.7:c.4000C>T ENSP00000393343.2:p.Gln1334Ter
ENST00000448424.6:c.3961C>T ENSP00000416738.2:p.Gln1321Ter
ENST00000448424.7:c.3943C>T ENSP00000416738.3:p.Gln1315Ter
ENST00000634296.1:c.1973C>T
ENST00000634296.2:c.*1845C>T ENSP00000489512.2:n.*1845C>T
ENST00000634308.1:c.*1296C>T ENSP00000489234.1:n.*1296C>T
ENST00000634620.1:n.4939C>T
ENST00000634810.1:n.3540C>T
ENST00000634844.1:c.4051C>T ENSP00000489398.1:p.Gln1351Ter
ENST00000673696.1:n.1518C>T
ENST00000673772.1:c.3961C>T ENSP00000501168.1:p.Gln1321Ter
ENST00000673864.2:c.*2939C>T ENSP00000501045.2:n.*2939C>T
ENST00000673867.1:n.4334C>T
ENST00000673923.1:n.1061C>T
ENST00000674147.1:c.3130C>T ENSP00000500964.1:p.Gln1044Ter
ENST00000674147.2:c.3574C>T ENSP00000500964.2:p.Gln1192Ter
XM_005266423.2:c.4099C>T XP_005266480.1:p.Gln1367Ter
XM_005266424.3:c.4099C>T XP_005266481.1:p.Gln1367Ter
XM_005266424.4:c.4099C>T XP_005266481.1:p.Gln1367Ter
XM_005266427.2:c.3961C>T XP_005266484.1:p.Gln1321Ter
XM_005266428.1:c.3943C>T XP_005266485.1:p.Gln1315Ter
XM_005266430.3:c.4195C>T XP_005266487.1:p.Gln1399Ter
XM_005266430.4:c.4195C>T XP_005266487.1:p.Gln1399Ter
XM_005266431.2:c.4159C>T XP_005266488.1:p.Gln1387Ter
XM_005266431.4:c.4159C>T XP_005266488.1:p.Gln1387Ter
XM_005266432.2:c.3709C>T XP_005266489.1:p.Gln1237Ter
XM_006719837.2:c.4099C>T XP_006719900.1:p.Gln1367Ter
XM_006719837.3:c.4099C>T XP_006719900.1:p.Gln1367Ter
XM_006719838.1:c.2011C>T XP_006719901.1:p.Gln671Ter
XM_006719839.1:c.1828C>T XP_006719902.1:p.Gln610Ter
XM_011535117.1:c.4099C>T XP_011533419.1:p.Gln1367Ter
XM_011535117.3:c.4099C>T XP_011533419.1:p.Gln1367Ter
XM_011535118.1:c.4060C>T XP_011533420.1:p.Gln1354Ter
XM_011535119.1:c.4012C>T XP_011533421.1:p.Gln1338Ter
XM_011535120.1:c.3781C>T XP_011533422.1:p.Gln1261Ter
XM_011535121.1:c.3682C>T XP_011533423.1:p.Gln1228Ter
XM_011535122.1:c.2863C>T XP_011533424.1:p.Gln955Ter
XM_017020627.1:c.4099C>T XP_016876116.1:p.Gln1367Ter
XR_941601.1:n.4414C>T
XR_941602.1:n.4414C>T
XR_941603.1:n.4414C>T
XR_941604.1:n.4414C>T