Canonical Allele Identifier: CA2207186
Community Standard Title: NM_001244008.2(KIF1A):c.5063C>T (p.Pro1688Leu)
Gene: KIF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240719157G>A , CM000664.2:g.240719157G>A GRCh38
NC_000002.11:g.241658574G>A , CM000664.1:g.241658574G>A GRCh37
NC_000002.10:g.241307247G>A NCBI36
NG_029724.1:g.106051C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001244008.2:c.5063C>T MANE Select NP_001230937.1:p.Pro1688Leu
ENST00000498729.9:c.5063C>T MANE Select ENSP00000438388.1:p.Pro1688Leu
NM_001244008.1:c.5063C>T NP_001230937.1:p.Pro1688Leu
NM_001320705.1:c.4787C>T NP_001307634.1:p.Pro1596Leu
NM_001320705.2:c.4787C>T NP_001307634.1:p.Pro1596Leu
NM_001330289.1:c.4814C>T NP_001317218.1:p.Pro1605Leu
NM_001330289.2:c.4814C>T NP_001317218.1:p.Pro1605Leu
NM_001330290.1:c.4862C>T NP_001317219.1:p.Pro1621Leu
NM_001330290.2:c.4862C>T NP_001317219.1:p.Pro1621Leu
NM_001379631.1:c.5138C>T NP_001366560.1:p.Pro1713Leu
NM_001379632.1:c.5039C>T NP_001366561.1:p.Pro1680Leu
NM_001379633.1:c.5036C>T NP_001366562.1:p.Pro1679Leu
NM_001379634.1:c.4889C>T NP_001366563.1:p.Pro1630Leu
NM_001379635.1:c.4886C>T NP_001366564.1:p.Pro1629Leu
NM_001379636.1:c.4874C>T NP_001366565.1:p.Pro1625Leu
NM_001379637.1:c.4835C>T NP_001366566.1:p.Pro1612Leu
NM_001379638.1:c.4811C>T NP_001366567.1:p.Pro1604Leu
NM_001379639.1:c.4784C>T NP_001366568.1:p.Pro1595Leu
NM_001379640.1:c.4757C>T NP_001366569.1:p.Pro1586Leu
NM_001379641.1:c.4760C>T NP_001366570.1:p.Pro1587Leu
NM_001379642.1:c.5063C>T NP_001366571.1:p.Pro1688Leu
NM_001379645.1:c.5036C>T NP_001366574.1:p.Pro1679Leu
NM_001379646.1:c.4886C>T NP_001366575.1:p.Pro1629Leu
NM_001379648.1:c.4862C>T NP_001366577.1:p.Pro1621Leu
NM_001379649.1:c.4787C>T NP_001366578.1:p.Pro1596Leu
NM_001379650.1:c.4760C>T NP_001366579.1:p.Pro1587Leu
NM_001379651.1:c.4760C>T NP_001366580.1:p.Pro1587Leu
NM_001379653.1:c.4760C>T NP_001366582.1:p.Pro1587Leu
NM_004321.6:c.4760C>T NP_004312.2:p.Pro1587Leu
NM_004321.7:c.4760C>T NP_004312.2:p.Pro1587Leu
NM_004321.8:c.4760C>T NP_004312.2:p.Pro1587Leu
ENST00000320389.11:c.4760C>T ENSP00000322791.7:p.Pro1587Leu
ENST00000320389.12:c.4784C>T ENSP00000322791.8:p.Pro1595Leu
ENST00000404283.9:c.5087C>T ENSP00000384231.5:p.Pro1696Leu
ENST00000431776.6:c.1883C>T ENSP00000414613.2:p.Pro628Leu
ENST00000460788.5:n.1620C>T
ENST00000488776.1:n.554C>T
ENST00000492812.5:n.1535C>T
ENST00000492812.6:n.3646C>T
ENST00000498729.6:c.5063C>T ENSP00000438388.1:p.Pro1688Leu
ENST00000647731.1:c.4787C>T ENSP00000498099.1:p.Pro1596Leu
ENST00000647885.1:c.4874C>T ENSP00000497739.1:p.Pro1625Leu
ENST00000648047.1:c.4022C>T ENSP00000497935.1:p.Pro1341Leu
ENST00000648129.1:c.5036C>T ENSP00000497293.1:p.Pro1679Leu
ENST00000648364.1:c.4787C>T ENSP00000498196.1:p.Pro1596Leu
ENST00000648680.1:c.4814C>T ENSP00000497586.1:p.Pro1605Leu
ENST00000649096.1:c.4760C>T ENSP00000497030.1:p.Pro1587Leu
ENST00000649190.1:n.4057C>T
ENST00000649306.1:c.4862C>T ENSP00000497678.1:p.Pro1621Leu
ENST00000650053.1:c.4760C>T ENSP00000497824.1:p.Pro1587Leu
ENST00000650130.1:c.5036C>T ENSP00000498082.1:p.Pro1679Leu
ENST00000650430.1:n.4135C>T
XM_005247022.1:c.5090C>T XP_005247079.1:p.Pro1697Leu
XM_005247023.1:c.5087C>T XP_005247080.1:p.Pro1696Leu
XM_005247024.1:c.5063C>T XP_005247081.1:p.Pro1688Leu
XM_005247026.1:c.4787C>T XP_005247083.1:p.Pro1596Leu
XM_005247027.1:c.4784C>T XP_005247084.1:p.Pro1595Leu
XM_005247028.1:c.4760C>T XP_005247085.1:p.Pro1587Leu
XM_006712605.1:c.5036C>T XP_006712668.1:p.Pro1679Leu
XM_011511364.1:c.5090C>T XP_011509666.1:p.Pro1697Leu
XM_011511365.1:c.4814C>T XP_011509667.1:p.Pro1605Leu
XM_011511366.1:c.4085C>T XP_011509668.1:p.Pro1362Leu
XM_011511367.1:c.4085C>T XP_011509669.1:p.Pro1362Leu