Canonical Allele Identifier: CA6988569
Community Standard Title: NM_000053.4(ATP7B):c.3784G>T (p.Val1262Phe)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51937595C>A , CM000675.2:g.51937595C>A GRCh38
NC_000013.10:g.52511731C>A , CM000675.1:g.52511731C>A GRCh37
NC_000013.9:g.51409732C>A NCBI36
NG_008806.1:g.78900G>T

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.3784G>T MANE Select NP_000044.2:p.Val1262Phe
ENST00000242839.10:c.3784G>T MANE Select ENSP00000242839.5:p.Val1262Phe
NM_000053.3:c.3784G>T NP_000044.2:p.Val1262Phe
NM_001005918.2:c.3163G>T NP_001005918.1:p.Val1055Phe
NM_001005918.3:c.3163G>T NP_001005918.1:p.Val1055Phe
NM_001243182.1:c.3451G>T NP_001230111.1:p.Val1151Phe
NM_001243182.2:c.3451G>T NP_001230111.1:p.Val1151Phe
NM_001330578.1:c.3550G>T NP_001317507.1:p.Val1184Phe
NM_001330578.2:c.3550G>T NP_001317507.1:p.Val1184Phe
NM_001330579.1:c.3532G>T NP_001317508.1:p.Val1178Phe
NM_001330579.2:c.3532G>T NP_001317508.1:p.Val1178Phe
ENST00000242839.8:c.3784G>T ENSP00000242839.4:p.Val1262Phe
ENST00000344297.8:c.3163G>T ENSP00000342559.5:p.Val1055Phe
ENST00000344297.9:c.3163G>T ENSP00000342559.5:p.Val1055Phe
ENST00000400366.5:c.3451G>T ENSP00000383217.3:p.Val1151Phe
ENST00000400366.6:c.3451G>T ENSP00000383217.3:p.Val1151Phe
ENST00000400370.8:c.2494G>T ENSP00000383221.3:p.Val832Phe
ENST00000418097.7:c.3589G>T ENSP00000393343.2:p.Val1197Phe
ENST00000448424.6:c.3550G>T ENSP00000416738.2:p.Val1184Phe
ENST00000448424.7:c.3532G>T ENSP00000416738.3:p.Val1178Phe
ENST00000634296.1:c.1562G>T
ENST00000634296.2:c.*1434G>T ENSP00000489512.2:n.*1434G>T
ENST00000634308.1:c.*885G>T ENSP00000489234.1:n.*885G>T
ENST00000634620.1:n.4528G>T
ENST00000634810.1:n.3129G>T
ENST00000634844.1:c.3640G>T ENSP00000489398.1:p.Val1214Phe
ENST00000673696.1:n.1025G>T
ENST00000673772.1:c.3550G>T ENSP00000501168.1:p.Val1184Phe
ENST00000673864.2:c.*2528G>T ENSP00000501045.2:n.*2528G>T
ENST00000673867.1:n.3923G>T
ENST00000673923.1:n.650G>T
ENST00000674147.1:c.2719G>T ENSP00000500964.1:p.Val907Phe
ENST00000674147.2:c.3163G>T ENSP00000500964.2:p.Val1055Phe
XM_005266423.2:c.3688G>T XP_005266480.1:p.Val1230Phe
XM_005266424.3:c.3688G>T XP_005266481.1:p.Val1230Phe
XM_005266424.4:c.3688G>T XP_005266481.1:p.Val1230Phe
XM_005266427.2:c.3550G>T XP_005266484.1:p.Val1184Phe
XM_005266428.1:c.3532G>T XP_005266485.1:p.Val1178Phe
XM_005266430.3:c.3784G>T XP_005266487.1:p.Val1262Phe
XM_005266430.4:c.3784G>T XP_005266487.1:p.Val1262Phe
XM_005266431.2:c.3748G>T XP_005266488.1:p.Val1250Phe
XM_005266431.4:c.3748G>T XP_005266488.1:p.Val1250Phe
XM_005266432.2:c.3298G>T XP_005266489.1:p.Val1100Phe
XM_006719837.2:c.3688G>T XP_006719900.1:p.Val1230Phe
XM_006719837.3:c.3688G>T XP_006719900.1:p.Val1230Phe
XM_006719838.1:c.1600G>T XP_006719901.1:p.Val534Phe
XM_006719839.1:c.1417G>T XP_006719902.1:p.Val473Phe
XM_011535117.1:c.3688G>T XP_011533419.1:p.Val1230Phe
XM_011535117.3:c.3688G>T XP_011533419.1:p.Val1230Phe
XM_011535118.1:c.3649G>T XP_011533420.1:p.Val1217Phe
XM_011535119.1:c.3601G>T XP_011533421.1:p.Val1201Phe
XM_011535120.1:c.3370G>T XP_011533422.1:p.Val1124Phe
XM_011535121.1:c.3271G>T XP_011533423.1:p.Val1091Phe
XM_011535122.1:c.2452G>T XP_011533424.1:p.Val818Phe
XM_017020627.1:c.3688G>T XP_016876116.1:p.Val1230Phe
XR_941601.1:n.4003G>T
XR_941602.1:n.4003G>T
XR_941603.1:n.4003G>T
XR_941604.1:n.4003G>T