Canonical Allele Identifier: CA388019785
Community Standard Title: NM_000053.4(ATP7B):c.4144G>T (p.Glu1382Ter)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51935010C>A , CM000675.2:g.51935010C>A GRCh38
NC_000013.10:g.52509146C>A , CM000675.1:g.52509146C>A GRCh37
NC_000013.9:g.51407147C>A NCBI36
NG_008806.1:g.81485G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.4144G>T MANE Select NP_000044.2:p.Glu1382Ter
ENST00000242839.10:c.4144G>T MANE Select ENSP00000242839.5:p.Glu1382Ter
NM_000053.3:c.4144G>T NP_000044.2:p.Glu1382Ter
NM_001005918.2:c.3523G>T NP_001005918.1:p.Glu1175Ter
NM_001005918.3:c.3523G>T NP_001005918.1:p.Glu1175Ter
NM_001243182.1:c.3811G>T NP_001230111.1:p.Glu1271Ter
NM_001243182.2:c.3811G>T NP_001230111.1:p.Glu1271Ter
NM_001330578.1:c.3910G>T NP_001317507.1:p.Glu1304Ter
NM_001330578.2:c.3910G>T NP_001317507.1:p.Glu1304Ter
NM_001330579.1:c.3892G>T NP_001317508.1:p.Glu1298Ter
NM_001330579.2:c.3892G>T NP_001317508.1:p.Glu1298Ter
ENST00000242839.8:c.4144G>T ENSP00000242839.4:p.Glu1382Ter
ENST00000344297.8:c.3523G>T ENSP00000342559.5:p.Glu1175Ter
ENST00000344297.9:c.3523G>T ENSP00000342559.5:p.Glu1175Ter
ENST00000400366.5:c.3811G>T ENSP00000383217.3:p.Glu1271Ter
ENST00000400366.6:c.3811G>T ENSP00000383217.3:p.Glu1271Ter
ENST00000400370.8:c.2854G>T ENSP00000383221.3:p.Glu952Ter
ENST00000418097.7:c.3949G>T ENSP00000393343.2:p.Glu1317Ter
ENST00000448424.6:c.3910G>T ENSP00000416738.2:p.Glu1304Ter
ENST00000448424.7:c.3892G>T ENSP00000416738.3:p.Glu1298Ter
ENST00000634296.1:c.1922G>T
ENST00000634296.2:c.*1794G>T ENSP00000489512.2:n.*1794G>T
ENST00000634308.1:c.*1245G>T ENSP00000489234.1:n.*1245G>T
ENST00000634620.1:n.4888G>T
ENST00000634810.1:n.3489G>T
ENST00000634844.1:c.4000G>T ENSP00000489398.1:p.Glu1334Ter
ENST00000673696.1:n.1467G>T
ENST00000673772.1:c.3910G>T ENSP00000501168.1:p.Glu1304Ter
ENST00000673864.2:c.*2888G>T ENSP00000501045.2:n.*2888G>T
ENST00000673867.1:n.4283G>T
ENST00000673923.1:n.1010G>T
ENST00000674147.1:c.3079G>T ENSP00000500964.1:p.Glu1027Ter
ENST00000674147.2:c.3523G>T ENSP00000500964.2:p.Glu1175Ter
XM_005266423.2:c.4048G>T XP_005266480.1:p.Glu1350Ter
XM_005266424.3:c.4048G>T XP_005266481.1:p.Glu1350Ter
XM_005266424.4:c.4048G>T XP_005266481.1:p.Glu1350Ter
XM_005266427.2:c.3910G>T XP_005266484.1:p.Glu1304Ter
XM_005266428.1:c.3892G>T XP_005266485.1:p.Glu1298Ter
XM_005266430.3:c.4144G>T XP_005266487.1:p.Glu1382Ter
XM_005266430.4:c.4144G>T XP_005266487.1:p.Glu1382Ter
XM_005266431.2:c.4108G>T XP_005266488.1:p.Glu1370Ter
XM_005266431.4:c.4108G>T XP_005266488.1:p.Glu1370Ter
XM_005266432.2:c.3658G>T XP_005266489.1:p.Glu1220Ter
XM_006719837.2:c.4048G>T XP_006719900.1:p.Glu1350Ter
XM_006719837.3:c.4048G>T XP_006719900.1:p.Glu1350Ter
XM_006719838.1:c.1960G>T XP_006719901.1:p.Glu654Ter
XM_006719839.1:c.1777G>T XP_006719902.1:p.Glu593Ter
XM_011535117.1:c.4048G>T XP_011533419.1:p.Glu1350Ter
XM_011535117.3:c.4048G>T XP_011533419.1:p.Glu1350Ter
XM_011535118.1:c.4009G>T XP_011533420.1:p.Glu1337Ter
XM_011535119.1:c.3961G>T XP_011533421.1:p.Glu1321Ter
XM_011535120.1:c.3730G>T XP_011533422.1:p.Glu1244Ter
XM_011535121.1:c.3631G>T XP_011533423.1:p.Glu1211Ter
XM_011535122.1:c.2812G>T XP_011533424.1:p.Glu938Ter
XM_017020627.1:c.4048G>T XP_016876116.1:p.Glu1350Ter
XR_941601.1:n.4363G>T
XR_941602.1:n.4363G>T
XR_941603.1:n.4363G>T
XR_941604.1:n.4363G>T