Canonical Allele Identifier: CA6988490
Community Standard Title: NM_000053.4(ATP7B):c.4103T>C (p.Leu1368Pro)
Gene: ATP7B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.51935614A>G , CM000675.2:g.51935614A>G GRCh38
NC_000013.10:g.52509750A>G , CM000675.1:g.52509750A>G GRCh37
NC_000013.9:g.51407751A>G NCBI36
NG_008806.1:g.80881T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000053.4:c.4103T>C MANE Select NP_000044.2:p.Leu1368Pro
ENST00000242839.10:c.4103T>C MANE Select ENSP00000242839.5:p.Leu1368Pro
NM_000053.3:c.4103T>C NP_000044.2:p.Leu1368Pro
NM_001005918.2:c.3482T>C NP_001005918.1:p.Leu1161Pro
NM_001005918.3:c.3482T>C NP_001005918.1:p.Leu1161Pro
NM_001243182.1:c.3770T>C NP_001230111.1:p.Leu1257Pro
NM_001243182.2:c.3770T>C NP_001230111.1:p.Leu1257Pro
NM_001330578.1:c.3869T>C NP_001317507.1:p.Leu1290Pro
NM_001330578.2:c.3869T>C NP_001317507.1:p.Leu1290Pro
NM_001330579.1:c.3851T>C NP_001317508.1:p.Leu1284Pro
NM_001330579.2:c.3851T>C NP_001317508.1:p.Leu1284Pro
ENST00000242839.8:c.4103T>C ENSP00000242839.4:p.Leu1368Pro
ENST00000344297.8:c.3482T>C ENSP00000342559.5:p.Leu1161Pro
ENST00000344297.9:c.3482T>C ENSP00000342559.5:p.Leu1161Pro
ENST00000400366.5:c.3770T>C ENSP00000383217.3:p.Leu1257Pro
ENST00000400366.6:c.3770T>C ENSP00000383217.3:p.Leu1257Pro
ENST00000400370.8:c.2813T>C ENSP00000383221.3:p.Leu938Pro
ENST00000418097.7:c.3908T>C ENSP00000393343.2:p.Leu1303Pro
ENST00000448424.6:c.3869T>C ENSP00000416738.2:p.Leu1290Pro
ENST00000448424.7:c.3851T>C ENSP00000416738.3:p.Leu1284Pro
ENST00000634296.1:c.1881T>C
ENST00000634296.2:c.*1753T>C ENSP00000489512.2:n.*1753T>C
ENST00000634308.1:c.*1204T>C ENSP00000489234.1:n.*1204T>C
ENST00000634620.1:n.4847T>C
ENST00000634810.1:n.3448T>C
ENST00000634844.1:c.3959T>C ENSP00000489398.1:p.Leu1320Pro
ENST00000673696.1:n.1426T>C
ENST00000673772.1:c.3869T>C ENSP00000501168.1:p.Leu1290Pro
ENST00000673864.2:c.*2847T>C ENSP00000501045.2:n.*2847T>C
ENST00000673867.1:n.4242T>C
ENST00000673923.1:n.969T>C
ENST00000674147.1:c.3038T>C ENSP00000500964.1:p.Leu1013Pro
ENST00000674147.2:c.3482T>C ENSP00000500964.2:p.Leu1161Pro
XM_005266423.2:c.4007T>C XP_005266480.1:p.Leu1336Pro
XM_005266424.3:c.4007T>C XP_005266481.1:p.Leu1336Pro
XM_005266424.4:c.4007T>C XP_005266481.1:p.Leu1336Pro
XM_005266427.2:c.3869T>C XP_005266484.1:p.Leu1290Pro
XM_005266428.1:c.3851T>C XP_005266485.1:p.Leu1284Pro
XM_005266430.3:c.4103T>C XP_005266487.1:p.Leu1368Pro
XM_005266430.4:c.4103T>C XP_005266487.1:p.Leu1368Pro
XM_005266431.2:c.4067T>C XP_005266488.1:p.Leu1356Pro
XM_005266431.4:c.4067T>C XP_005266488.1:p.Leu1356Pro
XM_005266432.2:c.3617T>C XP_005266489.1:p.Leu1206Pro
XM_006719837.2:c.4007T>C XP_006719900.1:p.Leu1336Pro
XM_006719837.3:c.4007T>C XP_006719900.1:p.Leu1336Pro
XM_006719838.1:c.1919T>C XP_006719901.1:p.Leu640Pro
XM_006719839.1:c.1736T>C XP_006719902.1:p.Leu579Pro
XM_011535117.1:c.4007T>C XP_011533419.1:p.Leu1336Pro
XM_011535117.3:c.4007T>C XP_011533419.1:p.Leu1336Pro
XM_011535118.1:c.3968T>C XP_011533420.1:p.Leu1323Pro
XM_011535119.1:c.3920T>C XP_011533421.1:p.Leu1307Pro
XM_011535120.1:c.3689T>C XP_011533422.1:p.Leu1230Pro
XM_011535121.1:c.3590T>C XP_011533423.1:p.Leu1197Pro
XM_011535122.1:c.2771T>C XP_011533424.1:p.Leu924Pro
XM_017020627.1:c.4007T>C XP_016876116.1:p.Leu1336Pro
XR_941601.1:n.4322T>C
XR_941602.1:n.4322T>C
XR_941603.1:n.4322T>C
XR_941604.1:n.4322T>C