Canonical Allele Identifier: CA6988836
Gene: ATP7B HGNC NCBI

Linked Data

dbSNP Id: rs771569121

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51946322G>A , CM000675.2:g.51946322G>A GRCh38
NC_000013.10:g.52520458G>A , CM000675.1:g.52520458G>A GRCh37
NC_000013.9:g.51418459G>A NCBI36
NG_008806.1:g.70173C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000634296.2:c.*855C>T ENSP00000489512.2:n.*855C>T
ENST00000673864.2:c.*1766C>T ENSP00000501045.2:n.*1766C>T
ENST00000674147.2:c.2401C>T ENSP00000500964.2:p.Leu801Phe
ENST00000242839.10:c.3022C>T MANE Select ENSP00000242839.5:p.Leu1008Phe
ENST00000344297.9:c.2401C>T ENSP00000342559.5:p.Leu801Phe
ENST00000400366.6:c.2689C>T ENSP00000383217.3:p.Leu897Phe
ENST00000448424.7:c.2770C>T ENSP00000416738.3:p.Leu924Phe
ENST00000673772.1:c.2788C>T ENSP00000501168.1:p.Leu930Phe
ENST00000673867.1:n.1169C>T
ENST00000674126.1:n.3385C>T
ENST00000674147.1:c.1957C>T ENSP00000500964.1:p.Leu653Phe
ENST00000242839.8:c.3022C>T ENSP00000242839.4:p.Leu1008Phe
ENST00000344297.8:c.2401C>T ENSP00000342559.5:p.Leu801Phe
ENST00000400366.5:c.2689C>T ENSP00000383217.3:p.Leu897Phe
ENST00000400370.8:c.1732C>T ENSP00000383221.3:p.Leu578Phe
ENST00000418097.7:c.2866-2031C>T ENSP00000393343.2:n.2866-2031C>T
ENST00000448424.6:c.2788C>T ENSP00000416738.2:p.Leu930Phe
ENST00000466629.1:n.242C>T
ENST00000634296.1:c.983C>T
ENST00000634308.1:c.*123C>T ENSP00000489234.1:n.*123C>T
ENST00000634620.1:n.3766C>T
ENST00000634810.1:n.2367C>T
ENST00000634844.1:c.2878C>T ENSP00000489398.1:p.Leu960Phe
ENST00000635406.1:n.368C>T
NM_000053.3:c.3022C>T NP_000044.2:p.Leu1008Phe
NM_001005918.2:c.2401C>T NP_001005918.1:p.Leu801Phe
NM_001243182.1:c.2689C>T NP_001230111.1:p.Leu897Phe
XM_005266423.2:c.2926C>T XP_005266480.1:p.Leu976Phe
XM_005266424.3:c.2926C>T XP_005266481.1:p.Leu976Phe
XM_005266427.2:c.2788C>T XP_005266484.1:p.Leu930Phe
XM_005266428.1:c.2770C>T XP_005266485.1:p.Leu924Phe
XM_005266430.3:c.3022C>T XP_005266487.1:p.Leu1008Phe
XM_005266431.2:c.2986C>T XP_005266488.1:p.Leu996Phe
XM_005266432.2:c.2536C>T XP_005266489.1:p.Leu846Phe
XM_006719837.2:c.2926C>T XP_006719900.1:p.Leu976Phe
XM_006719838.1:c.838C>T XP_006719901.1:p.Leu280Phe
XM_006719839.1:c.838C>T XP_006719902.1:p.Leu280Phe
XM_011535117.1:c.2926C>T XP_011533419.1:p.Leu976Phe
XM_011535118.1:c.2887C>T XP_011533420.1:p.Leu963Phe
XM_011535119.1:c.3022C>T XP_011533421.1:p.Leu1008Phe
XM_011535120.1:c.2608C>T XP_011533422.1:p.Leu870Phe
XM_011535121.1:c.2730+3685C>T XP_011533423.1:n.2730+3685C>T
XM_011535122.1:c.1690C>T XP_011533424.1:p.Leu564Phe
XR_941601.1:n.3241C>T
XR_941602.1:n.3241C>T
XR_941603.1:n.3241C>T
XR_941604.1:n.3241C>T
NM_001330578.1:c.2788C>T NP_001317507.1:p.Leu930Phe
NM_001330579.1:c.2770C>T NP_001317508.1:p.Leu924Phe
XM_005266424.4:c.2926C>T XP_005266481.1:p.Leu976Phe
XM_005266430.4:c.3022C>T XP_005266487.1:p.Leu1008Phe
XM_005266431.4:c.2986C>T XP_005266488.1:p.Leu996Phe
XM_006719837.3:c.2926C>T XP_006719900.1:p.Leu976Phe
XM_011535117.3:c.2926C>T XP_011533419.1:p.Leu976Phe
XM_017020627.1:c.2926C>T XP_016876116.1:p.Leu976Phe
NM_000053.4:c.3022C>T MANE Select NP_000044.2:p.Leu1008Phe
NM_001005918.3:c.2401C>T NP_001005918.1:p.Leu801Phe
NM_001330579.2:c.2770C>T NP_001317508.1:p.Leu924Phe
NM_001243182.2:c.2689C>T NP_001230111.1:p.Leu897Phe
NM_001330578.2:c.2788C>T NP_001317507.1:p.Leu930Phe