Canonical Allele Identifier: CA388029805
Community Standard Title: NM_000053.4(ATP7B):c.3227C>T (p.Thr1076Ile)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51944125G>A , CM000675.2:g.51944125G>A GRCh38
NC_000013.10:g.52518261G>A , CM000675.1:g.52518261G>A GRCh37
NC_000013.9:g.51416262G>A NCBI36
NG_008806.1:g.72370C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.3227C>T MANE Select NP_000044.2:p.Thr1076Ile
ENST00000242839.10:c.3227C>T MANE Select ENSP00000242839.5:p.Thr1076Ile
NM_000053.3:c.3227C>T NP_000044.2:p.Thr1076Ile
NM_001005918.2:c.2606C>T NP_001005918.1:p.Thr869Ile
NM_001005918.3:c.2606C>T NP_001005918.1:p.Thr869Ile
NM_001243182.1:c.2894C>T NP_001230111.1:p.Thr965Ile
NM_001243182.2:c.2894C>T NP_001230111.1:p.Thr965Ile
NM_001330578.1:c.2993C>T NP_001317507.1:p.Thr998Ile
NM_001330578.2:c.2993C>T NP_001317507.1:p.Thr998Ile
NM_001330579.1:c.2975C>T NP_001317508.1:p.Thr992Ile
NM_001330579.2:c.2975C>T NP_001317508.1:p.Thr992Ile
ENST00000242839.8:c.3227C>T ENSP00000242839.4:p.Thr1076Ile
ENST00000344297.8:c.2606C>T ENSP00000342559.5:p.Thr869Ile
ENST00000344297.9:c.2606C>T ENSP00000342559.5:p.Thr869Ile
ENST00000400366.5:c.2894C>T ENSP00000383217.3:p.Thr965Ile
ENST00000400366.6:c.2894C>T ENSP00000383217.3:p.Thr965Ile
ENST00000400370.8:c.1937C>T ENSP00000383221.3:p.Thr646Ile
ENST00000418097.7:c.3032C>T ENSP00000393343.2:p.Thr1011Ile
ENST00000448424.6:c.2993C>T ENSP00000416738.2:p.Thr998Ile
ENST00000448424.7:c.2975C>T ENSP00000416738.3:p.Thr992Ile
ENST00000466629.1:n.447C>T
ENST00000634296.1:c.1022-1571C>T
ENST00000634296.2:c.*894-1571C>T ENSP00000489512.2:n.*894-1571C>T
ENST00000634308.1:c.*328C>T ENSP00000489234.1:n.*328C>T
ENST00000634620.1:n.3971C>T
ENST00000634810.1:n.2572C>T
ENST00000634844.1:c.3083C>T ENSP00000489398.1:p.Thr1028Ile
ENST00000673772.1:c.2993C>T ENSP00000501168.1:p.Thr998Ile
ENST00000673864.2:c.*1971C>T ENSP00000501045.2:n.*1971C>T
ENST00000673867.1:n.3366C>T
ENST00000674126.1:n.3590C>T
ENST00000674147.1:c.2162C>T ENSP00000500964.1:p.Thr721Ile
ENST00000674147.2:c.2606C>T ENSP00000500964.2:p.Thr869Ile
XM_005266423.2:c.3131C>T XP_005266480.1:p.Thr1044Ile
XM_005266424.3:c.3131C>T XP_005266481.1:p.Thr1044Ile
XM_005266424.4:c.3131C>T XP_005266481.1:p.Thr1044Ile
XM_005266427.2:c.2993C>T XP_005266484.1:p.Thr998Ile
XM_005266428.1:c.2975C>T XP_005266485.1:p.Thr992Ile
XM_005266430.3:c.3227C>T XP_005266487.1:p.Thr1076Ile
XM_005266430.4:c.3227C>T XP_005266487.1:p.Thr1076Ile
XM_005266431.2:c.3191C>T XP_005266488.1:p.Thr1064Ile
XM_005266431.4:c.3191C>T XP_005266488.1:p.Thr1064Ile
XM_005266432.2:c.2741C>T XP_005266489.1:p.Thr914Ile
XM_006719837.2:c.3131C>T XP_006719900.1:p.Thr1044Ile
XM_006719837.3:c.3131C>T XP_006719900.1:p.Thr1044Ile
XM_006719838.1:c.1043C>T XP_006719901.1:p.Thr348Ile
XM_006719839.1:c.877-1571C>T XP_006719902.1:n.877-1571C>T
XM_011535117.1:c.3131C>T XP_011533419.1:p.Thr1044Ile
XM_011535117.3:c.3131C>T XP_011533419.1:p.Thr1044Ile
XM_011535118.1:c.3092C>T XP_011533420.1:p.Thr1031Ile
XM_011535119.1:c.3061-1571C>T XP_011533421.1:n.3061-1571C>T
XM_011535120.1:c.2813C>T XP_011533422.1:p.Thr938Ile
XM_011535121.1:c.2731-1571C>T XP_011533423.1:n.2731-1571C>T
XM_011535122.1:c.1895C>T XP_011533424.1:p.Thr632Ile
XM_017020627.1:c.3131C>T XP_016876116.1:p.Thr1044Ile
XR_941601.1:n.3446C>T
XR_941602.1:n.3446C>T
XR_941603.1:n.3446C>T
XR_941604.1:n.3446C>T