Canonical Allele Identifier: CA388021577
Community Standard Title: NM_000053.4(ATP7B):c.3862A>C (p.Thr1288Pro)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51937517T>G , CM000675.2:g.51937517T>G GRCh38
NC_000013.10:g.52511653T>G , CM000675.1:g.52511653T>G GRCh37
NC_000013.9:g.51409654T>G NCBI36
NG_008806.1:g.78978A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.3862A>C MANE Select NP_000044.2:p.Thr1288Pro
ENST00000242839.10:c.3862A>C MANE Select ENSP00000242839.5:p.Thr1288Pro
NM_000053.3:c.3862A>C NP_000044.2:p.Thr1288Pro
NM_001005918.2:c.3241A>C NP_001005918.1:p.Thr1081Pro
NM_001005918.3:c.3241A>C NP_001005918.1:p.Thr1081Pro
NM_001243182.1:c.3529A>C NP_001230111.1:p.Thr1177Pro
NM_001243182.2:c.3529A>C NP_001230111.1:p.Thr1177Pro
NM_001330578.1:c.3628A>C NP_001317507.1:p.Thr1210Pro
NM_001330578.2:c.3628A>C NP_001317507.1:p.Thr1210Pro
NM_001330579.1:c.3610A>C NP_001317508.1:p.Thr1204Pro
NM_001330579.2:c.3610A>C NP_001317508.1:p.Thr1204Pro
ENST00000242839.8:c.3862A>C ENSP00000242839.4:p.Thr1288Pro
ENST00000344297.8:c.3241A>C ENSP00000342559.5:p.Thr1081Pro
ENST00000344297.9:c.3241A>C ENSP00000342559.5:p.Thr1081Pro
ENST00000400366.5:c.3529A>C ENSP00000383217.3:p.Thr1177Pro
ENST00000400366.6:c.3529A>C ENSP00000383217.3:p.Thr1177Pro
ENST00000400370.8:c.2572A>C ENSP00000383221.3:p.Thr858Pro
ENST00000418097.7:c.3667A>C ENSP00000393343.2:p.Thr1223Pro
ENST00000448424.6:c.3628A>C ENSP00000416738.2:p.Thr1210Pro
ENST00000448424.7:c.3610A>C ENSP00000416738.3:p.Thr1204Pro
ENST00000634296.1:c.1640A>C
ENST00000634296.2:c.*1512A>C ENSP00000489512.2:n.*1512A>C
ENST00000634308.1:c.*963A>C ENSP00000489234.1:n.*963A>C
ENST00000634620.1:n.4606A>C
ENST00000634810.1:n.3207A>C
ENST00000634844.1:c.3718A>C ENSP00000489398.1:p.Thr1240Pro
ENST00000673696.1:n.1103A>C
ENST00000673772.1:c.3628A>C ENSP00000501168.1:p.Thr1210Pro
ENST00000673864.2:c.*2606A>C ENSP00000501045.2:n.*2606A>C
ENST00000673867.1:n.4001A>C
ENST00000673923.1:n.728A>C
ENST00000674147.1:c.2797A>C ENSP00000500964.1:p.Thr933Pro
ENST00000674147.2:c.3241A>C ENSP00000500964.2:p.Thr1081Pro
XM_005266423.2:c.3766A>C XP_005266480.1:p.Thr1256Pro
XM_005266424.3:c.3766A>C XP_005266481.1:p.Thr1256Pro
XM_005266424.4:c.3766A>C XP_005266481.1:p.Thr1256Pro
XM_005266427.2:c.3628A>C XP_005266484.1:p.Thr1210Pro
XM_005266428.1:c.3610A>C XP_005266485.1:p.Thr1204Pro
XM_005266430.3:c.3862A>C XP_005266487.1:p.Thr1288Pro
XM_005266430.4:c.3862A>C XP_005266487.1:p.Thr1288Pro
XM_005266431.2:c.3826A>C XP_005266488.1:p.Thr1276Pro
XM_005266431.4:c.3826A>C XP_005266488.1:p.Thr1276Pro
XM_005266432.2:c.3376A>C XP_005266489.1:p.Thr1126Pro
XM_006719837.2:c.3766A>C XP_006719900.1:p.Thr1256Pro
XM_006719837.3:c.3766A>C XP_006719900.1:p.Thr1256Pro
XM_006719838.1:c.1678A>C XP_006719901.1:p.Thr560Pro
XM_006719839.1:c.1495A>C XP_006719902.1:p.Thr499Pro
XM_011535117.1:c.3766A>C XP_011533419.1:p.Thr1256Pro
XM_011535117.3:c.3766A>C XP_011533419.1:p.Thr1256Pro
XM_011535118.1:c.3727A>C XP_011533420.1:p.Thr1243Pro
XM_011535119.1:c.3679A>C XP_011533421.1:p.Thr1227Pro
XM_011535120.1:c.3448A>C XP_011533422.1:p.Thr1150Pro
XM_011535121.1:c.3349A>C XP_011533423.1:p.Thr1117Pro
XM_011535122.1:c.2530A>C XP_011533424.1:p.Thr844Pro
XM_017020627.1:c.3766A>C XP_016876116.1:p.Thr1256Pro
XR_941601.1:n.4081A>C
XR_941602.1:n.4081A>C
XR_941603.1:n.4081A>C
XR_941604.1:n.4081A>C