Canonical Allele Identifier: CA2207340
Community Standard Title: NM_001244008.2(KIF1A):c.4723G>A (p.Val1575Ile)
Gene: KIF1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240721827C>T , CM000664.2:g.240721827C>T GRCh38
NC_000002.11:g.241661244C>T , CM000664.1:g.241661244C>T GRCh37
NC_000002.10:g.241309917C>T NCBI36
NG_029724.1:g.103381G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001244008.2:c.4723G>A MANE Select NP_001230937.1:p.Val1575Ile
ENST00000498729.9:c.4723G>A MANE Select ENSP00000438388.1:p.Val1575Ile
NM_001244008.1:c.4723G>A NP_001230937.1:p.Val1575Ile
NM_001320705.1:c.4447G>A NP_001307634.1:p.Val1483Ile
NM_001320705.2:c.4447G>A NP_001307634.1:p.Val1483Ile
NM_001330289.1:c.4474G>A NP_001317218.1:p.Val1492Ile
NM_001330289.2:c.4474G>A NP_001317218.1:p.Val1492Ile
NM_001330290.1:c.4522G>A NP_001317219.1:p.Val1508Ile
NM_001330290.2:c.4522G>A NP_001317219.1:p.Val1508Ile
NM_001379631.1:c.4798G>A NP_001366560.1:p.Val1600Ile
NM_001379632.1:c.4699G>A NP_001366561.1:p.Val1567Ile
NM_001379633.1:c.4696G>A NP_001366562.1:p.Val1566Ile
NM_001379634.1:c.4549G>A NP_001366563.1:p.Val1517Ile
NM_001379635.1:c.4546G>A NP_001366564.1:p.Val1516Ile
NM_001379636.1:c.4534G>A NP_001366565.1:p.Val1512Ile
NM_001379637.1:c.4495G>A NP_001366566.1:p.Val1499Ile
NM_001379638.1:c.4471G>A NP_001366567.1:p.Val1491Ile
NM_001379639.1:c.4444G>A NP_001366568.1:p.Val1482Ile
NM_001379640.1:c.4417G>A NP_001366569.1:p.Val1473Ile
NM_001379641.1:c.4420G>A NP_001366570.1:p.Val1474Ile
NM_001379642.1:c.4723G>A NP_001366571.1:p.Val1575Ile
NM_001379645.1:c.4696G>A NP_001366574.1:p.Val1566Ile
NM_001379646.1:c.4546G>A NP_001366575.1:p.Val1516Ile
NM_001379648.1:c.4522G>A NP_001366577.1:p.Val1508Ile
NM_001379649.1:c.4447G>A NP_001366578.1:p.Val1483Ile
NM_001379650.1:c.4420G>A NP_001366579.1:p.Val1474Ile
NM_001379651.1:c.4420G>A NP_001366580.1:p.Val1474Ile
NM_001379653.1:c.4420G>A NP_001366582.1:p.Val1474Ile
NM_004321.6:c.4420G>A NP_004312.2:p.Val1474Ile
NM_004321.7:c.4420G>A NP_004312.2:p.Val1474Ile
NM_004321.8:c.4420G>A NP_004312.2:p.Val1474Ile
ENST00000320389.11:c.4420G>A ENSP00000322791.7:p.Val1474Ile
ENST00000320389.12:c.4444G>A ENSP00000322791.8:p.Val1482Ile
ENST00000404283.9:c.4747G>A ENSP00000384231.5:p.Val1583Ile
ENST00000431776.6:c.1543G>A ENSP00000414613.2:p.Val515Ile
ENST00000460788.5:n.1280G>A
ENST00000465813.1:n.261G>A
ENST00000465813.2:n.283G>A
ENST00000492812.5:n.1195G>A
ENST00000492812.6:n.3306G>A
ENST00000498729.6:c.4723G>A ENSP00000438388.1:p.Val1575Ile
ENST00000647731.1:c.4447G>A ENSP00000498099.1:p.Val1483Ile
ENST00000647885.1:c.4534G>A ENSP00000497739.1:p.Val1512Ile
ENST00000648047.1:c.3682G>A ENSP00000497935.1:p.Val1228Ile
ENST00000648129.1:c.4696G>A ENSP00000497293.1:p.Val1566Ile
ENST00000648364.1:c.4447G>A ENSP00000498196.1:p.Val1483Ile
ENST00000648680.1:c.4474G>A ENSP00000497586.1:p.Val1492Ile
ENST00000649096.1:c.4420G>A ENSP00000497030.1:p.Val1474Ile
ENST00000649190.1:n.3717G>A
ENST00000649306.1:c.4522G>A ENSP00000497678.1:p.Val1508Ile
ENST00000650053.1:c.4420G>A ENSP00000497824.1:p.Val1474Ile
ENST00000650130.1:c.4696G>A ENSP00000498082.1:p.Val1566Ile
ENST00000650430.1:n.3795G>A
ENST00000676050.1:c.58G>A ENSP00000501938.1:p.Val20Ile
XM_005247022.1:c.4750G>A XP_005247079.1:p.Val1584Ile
XM_005247023.1:c.4747G>A XP_005247080.1:p.Val1583Ile
XM_005247024.1:c.4723G>A XP_005247081.1:p.Val1575Ile
XM_005247026.1:c.4447G>A XP_005247083.1:p.Val1483Ile
XM_005247027.1:c.4444G>A XP_005247084.1:p.Val1482Ile
XM_005247028.1:c.4420G>A XP_005247085.1:p.Val1474Ile
XM_006712605.1:c.4696G>A XP_006712668.1:p.Val1566Ile
XM_011511364.1:c.4750G>A XP_011509666.1:p.Val1584Ile
XM_011511365.1:c.4474G>A XP_011509667.1:p.Val1492Ile
XM_011511366.1:c.3745G>A XP_011509668.1:p.Val1249Ile
XM_011511367.1:c.3745G>A XP_011509669.1:p.Val1249Ile