Canonical Allele Identifier: CA388018852
Community Standard Title: NM_000053.4(ATP7B):c.4356G>A (p.Trp1452Ter)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51934798C>T , CM000675.2:g.51934798C>T GRCh38
NC_000013.10:g.52508934C>T , CM000675.1:g.52508934C>T GRCh37
NC_000013.9:g.51406935C>T NCBI36
NG_008806.1:g.81697G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.4356G>A MANE Select NP_000044.2:p.Trp1452Ter
ENST00000242839.10:c.4356G>A MANE Select ENSP00000242839.5:p.Trp1452Ter
NM_000053.3:c.4356G>A NP_000044.2:p.Trp1452Ter
NM_001005918.2:c.3735G>A NP_001005918.1:p.Trp1245Ter
NM_001005918.3:c.3735G>A NP_001005918.1:p.Trp1245Ter
NM_001243182.1:c.4023G>A NP_001230111.1:p.Trp1341Ter
NM_001243182.2:c.4023G>A NP_001230111.1:p.Trp1341Ter
NM_001330578.1:c.4122G>A NP_001317507.1:p.Trp1374Ter
NM_001330578.2:c.4122G>A NP_001317507.1:p.Trp1374Ter
NM_001330579.1:c.4104G>A NP_001317508.1:p.Trp1368Ter
NM_001330579.2:c.4104G>A NP_001317508.1:p.Trp1368Ter
ENST00000242839.8:c.4356G>A ENSP00000242839.4:p.Trp1452Ter
ENST00000344297.8:c.3735G>A ENSP00000342559.5:p.Trp1245Ter
ENST00000344297.9:c.3735G>A ENSP00000342559.5:p.Trp1245Ter
ENST00000400366.5:c.4023G>A ENSP00000383217.3:p.Trp1341Ter
ENST00000400366.6:c.4023G>A ENSP00000383217.3:p.Trp1341Ter
ENST00000400370.8:c.3066G>A ENSP00000383221.3:p.Trp1022Ter
ENST00000418097.7:c.4161G>A ENSP00000393343.2:p.Trp1387Ter
ENST00000448424.6:c.4122G>A ENSP00000416738.2:p.Trp1374Ter
ENST00000448424.7:c.4104G>A ENSP00000416738.3:p.Trp1368Ter
ENST00000634296.1:c.2134G>A
ENST00000634296.2:c.*2006G>A ENSP00000489512.2:n.*2006G>A
ENST00000634308.1:c.*1457G>A ENSP00000489234.1:n.*1457G>A
ENST00000634620.1:n.5100G>A
ENST00000634810.1:n.3701G>A
ENST00000634844.1:c.4212G>A ENSP00000489398.1:p.Trp1404Ter
ENST00000673696.1:n.1679G>A
ENST00000673772.1:c.4122G>A ENSP00000501168.1:p.Trp1374Ter
ENST00000673864.2:c.*3100G>A ENSP00000501045.2:n.*3100G>A
ENST00000673867.1:n.4495G>A
ENST00000673923.1:n.1222G>A
ENST00000674147.1:c.3291G>A ENSP00000500964.1:p.Trp1097Ter
ENST00000674147.2:c.3735G>A ENSP00000500964.2:p.Trp1245Ter
XM_005266423.2:c.4260G>A XP_005266480.1:p.Trp1420Ter
XM_005266424.3:c.4260G>A XP_005266481.1:p.Trp1420Ter
XM_005266424.4:c.4260G>A XP_005266481.1:p.Trp1420Ter
XM_005266427.2:c.4122G>A XP_005266484.1:p.Trp1374Ter
XM_005266428.1:c.4104G>A XP_005266485.1:p.Trp1368Ter
XM_005266430.3:c.4356G>A XP_005266487.1:p.Trp1452Ter
XM_005266430.4:c.4356G>A XP_005266487.1:p.Trp1452Ter
XM_005266431.2:c.4320G>A XP_005266488.1:p.Trp1440Ter
XM_005266431.4:c.4320G>A XP_005266488.1:p.Trp1440Ter
XM_005266432.2:c.3870G>A XP_005266489.1:p.Trp1290Ter
XM_006719837.2:c.4260G>A XP_006719900.1:p.Trp1420Ter
XM_006719837.3:c.4260G>A XP_006719900.1:p.Trp1420Ter
XM_006719838.1:c.2172G>A XP_006719901.1:p.Trp724Ter
XM_006719839.1:c.1989G>A XP_006719902.1:p.Trp663Ter
XM_011535117.1:c.4260G>A XP_011533419.1:p.Trp1420Ter
XM_011535117.3:c.4260G>A XP_011533419.1:p.Trp1420Ter
XM_011535118.1:c.4221G>A XP_011533420.1:p.Trp1407Ter
XM_011535119.1:c.4173G>A XP_011533421.1:p.Trp1391Ter
XM_011535120.1:c.3942G>A XP_011533422.1:p.Trp1314Ter
XM_011535121.1:c.3843G>A XP_011533423.1:p.Trp1281Ter
XM_011535122.1:c.3024G>A XP_011533424.1:p.Trp1008Ter
XM_017020627.1:c.4260G>A XP_016876116.1:p.Trp1420Ter
XR_941601.1:n.4575G>A
XR_941602.1:n.4575G>A
XR_941603.1:n.4575G>A
XR_941604.1:n.4575G>A