Canonical Allele Identifier: CA2207381
Community Standard Title: NM_001244008.2(KIF1A):c.4595C>T (p.Pro1532Leu)
Gene: KIF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240722526G>A , CM000664.2:g.240722526G>A GRCh38
NC_000002.11:g.241661943G>A , CM000664.1:g.241661943G>A GRCh37
NC_000002.10:g.241310616G>A NCBI36
NG_029724.1:g.102682C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001244008.2:c.4595C>T MANE Select NP_001230937.1:p.Pro1532Leu
ENST00000498729.9:c.4595C>T MANE Select ENSP00000438388.1:p.Pro1532Leu
NM_001244008.1:c.4595C>T NP_001230937.1:p.Pro1532Leu
NM_001320705.1:c.4319C>T NP_001307634.1:p.Pro1440Leu
NM_001320705.2:c.4319C>T NP_001307634.1:p.Pro1440Leu
NM_001330289.1:c.4346C>T NP_001317218.1:p.Pro1449Leu
NM_001330289.2:c.4346C>T NP_001317218.1:p.Pro1449Leu
NM_001330290.1:c.4394C>T NP_001317219.1:p.Pro1465Leu
NM_001330290.2:c.4394C>T NP_001317219.1:p.Pro1465Leu
NM_001379631.1:c.4670C>T NP_001366560.1:p.Pro1557Leu
NM_001379632.1:c.4571C>T NP_001366561.1:p.Pro1524Leu
NM_001379633.1:c.4568C>T NP_001366562.1:p.Pro1523Leu
NM_001379634.1:c.4421C>T NP_001366563.1:p.Pro1474Leu
NM_001379635.1:c.4418C>T NP_001366564.1:p.Pro1473Leu
NM_001379636.1:c.4406C>T NP_001366565.1:p.Pro1469Leu
NM_001379637.1:c.4367C>T NP_001366566.1:p.Pro1456Leu
NM_001379638.1:c.4343C>T NP_001366567.1:p.Pro1448Leu
NM_001379639.1:c.4316C>T NP_001366568.1:p.Pro1439Leu
NM_001379640.1:c.4289C>T NP_001366569.1:p.Pro1430Leu
NM_001379641.1:c.4292C>T NP_001366570.1:p.Pro1431Leu
NM_001379642.1:c.4595C>T NP_001366571.1:p.Pro1532Leu
NM_001379645.1:c.4568C>T NP_001366574.1:p.Pro1523Leu
NM_001379646.1:c.4418C>T NP_001366575.1:p.Pro1473Leu
NM_001379648.1:c.4394C>T NP_001366577.1:p.Pro1465Leu
NM_001379649.1:c.4319C>T NP_001366578.1:p.Pro1440Leu
NM_001379650.1:c.4292C>T NP_001366579.1:p.Pro1431Leu
NM_001379651.1:c.4292C>T NP_001366580.1:p.Pro1431Leu
NM_001379653.1:c.4292C>T NP_001366582.1:p.Pro1431Leu
NM_004321.6:c.4292C>T NP_004312.2:p.Pro1431Leu
NM_004321.7:c.4292C>T NP_004312.2:p.Pro1431Leu
NM_004321.8:c.4292C>T NP_004312.2:p.Pro1431Leu
ENST00000320389.11:c.4292C>T ENSP00000322791.7:p.Pro1431Leu
ENST00000320389.12:c.4316C>T ENSP00000322791.8:p.Pro1439Leu
ENST00000404283.9:c.4619C>T ENSP00000384231.5:p.Pro1540Leu
ENST00000431776.6:c.1415C>T ENSP00000414613.2:p.Pro472Leu
ENST00000460788.5:n.1152C>T
ENST00000465813.1:n.133C>T
ENST00000465813.2:n.155C>T
ENST00000492812.5:n.1067C>T
ENST00000492812.6:n.3178C>T
ENST00000498729.6:c.4595C>T ENSP00000438388.1:p.Pro1532Leu
ENST00000647731.1:c.4319C>T ENSP00000498099.1:p.Pro1440Leu
ENST00000647885.1:c.4406C>T ENSP00000497739.1:p.Pro1469Leu
ENST00000648047.1:c.3554C>T ENSP00000497935.1:p.Pro1185Leu
ENST00000648129.1:c.4568C>T ENSP00000497293.1:p.Pro1523Leu
ENST00000648364.1:c.4319C>T ENSP00000498196.1:p.Pro1440Leu
ENST00000648680.1:c.4346C>T ENSP00000497586.1:p.Pro1449Leu
ENST00000649096.1:c.4292C>T ENSP00000497030.1:p.Pro1431Leu
ENST00000649190.1:n.3589C>T
ENST00000649306.1:c.4394C>T ENSP00000497678.1:p.Pro1465Leu
ENST00000650053.1:c.4292C>T ENSP00000497824.1:p.Pro1431Leu
ENST00000650130.1:c.4568C>T ENSP00000498082.1:p.Pro1523Leu
ENST00000650430.1:n.3667C>T
XM_005247022.1:c.4622C>T XP_005247079.1:p.Pro1541Leu
XM_005247023.1:c.4619C>T XP_005247080.1:p.Pro1540Leu
XM_005247024.1:c.4595C>T XP_005247081.1:p.Pro1532Leu
XM_005247026.1:c.4319C>T XP_005247083.1:p.Pro1440Leu
XM_005247027.1:c.4316C>T XP_005247084.1:p.Pro1439Leu
XM_005247028.1:c.4292C>T XP_005247085.1:p.Pro1431Leu
XM_006712605.1:c.4568C>T XP_006712668.1:p.Pro1523Leu
XM_011511364.1:c.4622C>T XP_011509666.1:p.Pro1541Leu
XM_011511365.1:c.4346C>T XP_011509667.1:p.Pro1449Leu
XM_011511366.1:c.3617C>T XP_011509668.1:p.Pro1206Leu
XM_011511367.1:c.3617C>T XP_011509669.1:p.Pro1206Leu