Canonical Allele Identifier: CA1339257285
Community Standard Title: NM_001244008.2(KIF1A):c.4339C= (p.Arg1447=)
Gene: KIF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240723538G= , CM000664.2:g.240723538G= GRCh38
NC_000002.11:g.241662955G= , CM000664.1:g.241662955G= GRCh37
NC_000002.10:g.241311628G= NCBI36
NG_029724.1:g.101670C=

Transcript Alleles

HGVS Amino-acid Change
NM_001244008.2:c.4339C= MANE Select NP_001230937.1:p.Arg1447=
ENST00000498729.9:c.4339C= MANE Select ENSP00000438388.1:p.Arg1447=
NM_001244008.1:c.4339C= NP_001230937.1:p.Arg1447=
NM_001320705.1:c.4063C= NP_001307634.1:p.Arg1355=
NM_001320705.2:c.4063C= NP_001307634.1:p.Arg1355=
NM_001330289.1:c.4090C= NP_001317218.1:p.Arg1364=
NM_001330289.2:c.4090C= NP_001317218.1:p.Arg1364=
NM_001330290.1:c.4138C= NP_001317219.1:p.Arg1380=
NM_001330290.2:c.4138C= NP_001317219.1:p.Arg1380=
NM_001379631.1:c.4414C= NP_001366560.1:p.Arg1472=
NM_001379632.1:c.4315C= NP_001366561.1:p.Arg1439=
NM_001379633.1:c.4312C= NP_001366562.1:p.Arg1438=
NM_001379634.1:c.4165C= NP_001366563.1:p.Arg1389=
NM_001379635.1:c.4162C= NP_001366564.1:p.Arg1388=
NM_001379636.1:c.4150C= NP_001366565.1:p.Arg1384=
NM_001379637.1:c.4111C= NP_001366566.1:p.Arg1371=
NM_001379638.1:c.4087C= NP_001366567.1:p.Arg1363=
NM_001379639.1:c.4060C= NP_001366568.1:p.Arg1354=
NM_001379640.1:c.4033C= NP_001366569.1:p.Arg1345=
NM_001379641.1:c.4036C= NP_001366570.1:p.Arg1346=
NM_001379642.1:c.4339C= NP_001366571.1:p.Arg1447=
NM_001379645.1:c.4312C= NP_001366574.1:p.Arg1438=
NM_001379646.1:c.4162C= NP_001366575.1:p.Arg1388=
NM_001379648.1:c.4138C= NP_001366577.1:p.Arg1380=
NM_001379649.1:c.4063C= NP_001366578.1:p.Arg1355=
NM_001379650.1:c.4036C= NP_001366579.1:p.Arg1346=
NM_001379651.1:c.4036C= NP_001366580.1:p.Arg1346=
NM_001379653.1:c.4036C= NP_001366582.1:p.Arg1346=
NM_004321.6:c.4036C= NP_004312.2:p.Arg1346=
NM_004321.7:c.4036C= NP_004312.2:p.Arg1346=
NM_004321.8:c.4036C= NP_004312.2:p.Arg1346=
ENST00000320389.11:c.4036C= ENSP00000322791.7:p.Arg1346=
ENST00000320389.12:c.4060C= ENSP00000322791.8:p.Arg1354=
ENST00000404283.7:c.4363C= ENSP00000384231.3:p.Arg1455=
ENST00000404283.9:c.4363C= ENSP00000384231.5:p.Arg1455=
ENST00000431776.5:c.834C=
ENST00000431776.6:c.1159C= ENSP00000414613.2:p.Arg387=
ENST00000460788.5:n.896C=
ENST00000492812.5:n.811C=
ENST00000492812.6:n.2922C=
ENST00000498729.6:c.4339C= ENSP00000438388.1:p.Arg1447=
ENST00000647731.1:c.4063C= ENSP00000498099.1:p.Arg1355=
ENST00000647885.1:c.4150C= ENSP00000497739.1:p.Arg1384=
ENST00000648047.1:c.3298C= ENSP00000497935.1:p.Arg1100=
ENST00000648129.1:c.4312C= ENSP00000497293.1:p.Arg1438=
ENST00000648364.1:c.4063C= ENSP00000498196.1:p.Arg1355=
ENST00000648680.1:c.4090C= ENSP00000497586.1:p.Arg1364=
ENST00000649096.1:c.4036C= ENSP00000497030.1:p.Arg1346=
ENST00000649190.1:n.3333C=
ENST00000649306.1:c.4138C= ENSP00000497678.1:p.Arg1380=
ENST00000650053.1:c.4036C= ENSP00000497824.1:p.Arg1346=
ENST00000650130.1:c.4312C= ENSP00000498082.1:p.Arg1438=
ENST00000650430.1:n.3411C=
ENST00000676368.1:n.111C=
XM_005247022.1:c.4366C= XP_005247079.1:p.Arg1456=
XM_005247023.1:c.4363C= XP_005247080.1:p.Arg1455=
XM_005247024.1:c.4339C= XP_005247081.1:p.Arg1447=
XM_005247026.1:c.4063C= XP_005247083.1:p.Arg1355=
XM_005247027.1:c.4060C= XP_005247084.1:p.Arg1354=
XM_005247028.1:c.4036C= XP_005247085.1:p.Arg1346=
XM_006712605.1:c.4312C= XP_006712668.1:p.Arg1438=
XM_011511364.1:c.4366C= XP_011509666.1:p.Arg1456=
XM_011511365.1:c.4090C= XP_011509667.1:p.Arg1364=
XM_011511366.1:c.3361C= XP_011509668.1:p.Arg1121=
XM_011511367.1:c.3361C= XP_011509669.1:p.Arg1121=