Canonical Allele Identifier: CA3200933584
Community Standard Title: NM_000053.4(ATP7B):c.2901C= (p.Ile967=)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51946443G= , CM000675.2:g.51946443G= GRCh38
NC_000013.10:g.52520579G= , CM000675.1:g.52520579G= GRCh37
NC_000013.9:g.51418580G= NCBI36
NG_008806.1:g.70052C=

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.2901C= MANE Select NP_000044.2:p.Ile967=
ENST00000242839.10:c.2901C= MANE Select ENSP00000242839.5:p.Ile967=
NM_000053.3:c.2901C= NP_000044.2:p.Ile967=
NM_001005918.2:c.2280C= NP_001005918.1:p.Ile760=
NM_001005918.3:c.2280C= NP_001005918.1:p.Ile760=
NM_001243182.1:c.2568C= NP_001230111.1:p.Ile856=
NM_001243182.2:c.2568C= NP_001230111.1:p.Ile856=
NM_001330578.1:c.2667C= NP_001317507.1:p.Ile889=
NM_001330578.2:c.2667C= NP_001317507.1:p.Ile889=
NM_001330579.1:c.2649C= NP_001317508.1:p.Ile883=
NM_001330579.2:c.2649C= NP_001317508.1:p.Ile883=
ENST00000242839.8:c.2901C= ENSP00000242839.4:p.Ile967=
ENST00000344297.8:c.2280C= ENSP00000342559.5:p.Ile760=
ENST00000344297.9:c.2280C= ENSP00000342559.5:p.Ile760=
ENST00000400366.5:c.2568C= ENSP00000383217.3:p.Ile856=
ENST00000400366.6:c.2568C= ENSP00000383217.3:p.Ile856=
ENST00000400370.8:c.1611C= ENSP00000383221.3:p.Ile537=
ENST00000418097.7:c.2866-2152C= ENSP00000393343.2:n.2866-2152C=
ENST00000448424.6:c.2667C= ENSP00000416738.2:p.Ile889=
ENST00000448424.7:c.2649C= ENSP00000416738.3:p.Ile883=
ENST00000466629.1:n.121C=
ENST00000634296.1:c.862C=
ENST00000634296.2:c.*734C= ENSP00000489512.2:n.*734C=
ENST00000634308.1:c.*2C= ENSP00000489234.1:n.*2C=
ENST00000634620.1:n.3645C=
ENST00000634810.1:n.2246C=
ENST00000634844.1:c.2757C= ENSP00000489398.1:p.Ile919=
ENST00000635406.1:n.247C=
ENST00000673772.1:c.2667C= ENSP00000501168.1:p.Ile889=
ENST00000673864.2:c.*1645C= ENSP00000501045.2:n.*1645C=
ENST00000673867.1:n.1048C=
ENST00000674126.1:n.3264C=
ENST00000674147.1:c.1836C= ENSP00000500964.1:p.Ile612=
ENST00000674147.2:c.2280C= ENSP00000500964.2:p.Ile760=
XM_005266423.2:c.2805C= XP_005266480.1:p.Ile935=
XM_005266424.3:c.2805C= XP_005266481.1:p.Ile935=
XM_005266424.4:c.2805C= XP_005266481.1:p.Ile935=
XM_005266427.2:c.2667C= XP_005266484.1:p.Ile889=
XM_005266428.1:c.2649C= XP_005266485.1:p.Ile883=
XM_005266430.3:c.2901C= XP_005266487.1:p.Ile967=
XM_005266430.4:c.2901C= XP_005266487.1:p.Ile967=
XM_005266431.2:c.2865C= XP_005266488.1:p.Ile955=
XM_005266431.4:c.2865C= XP_005266488.1:p.Ile955=
XM_005266432.2:c.2415C= XP_005266489.1:p.Ile805=
XM_006719837.2:c.2805C= XP_006719900.1:p.Ile935=
XM_006719837.3:c.2805C= XP_006719900.1:p.Ile935=
XM_006719838.1:c.717C= XP_006719901.1:p.Ile239=
XM_006719839.1:c.717C= XP_006719902.1:p.Ile239=
XM_011535117.1:c.2805C= XP_011533419.1:p.Ile935=
XM_011535117.3:c.2805C= XP_011533419.1:p.Ile935=
XM_011535118.1:c.2766C= XP_011533420.1:p.Ile922=
XM_011535119.1:c.2901C= XP_011533421.1:p.Ile967=
XM_011535120.1:c.2487C= XP_011533422.1:p.Ile829=
XM_011535121.1:c.2730+3564C= XP_011533423.1:n.2730+3564C=
XM_011535122.1:c.1569C= XP_011533424.1:p.Ile523=
XM_017020627.1:c.2805C= XP_016876116.1:p.Ile935=
XR_941601.1:n.3120C=
XR_941602.1:n.3120C=
XR_941603.1:n.3120C=
XR_941604.1:n.3120C=