Canonical Allele Identifier: CA206106

Gene: KIF1A

Linked Data

• ClinVar Variation Id: 211287
• ClinVar RCV Id: RCV000192942 ; RCV001231462 ; RCV003133168
• dbSNP Id: rs572923181
• ExAC: 2:241661953 C / T
• gnomAD v2: 2-241661953-C-T
• gnomAD v3: 2-240722536-C-T
• gnomAD v4: 2-240722536-C-T
• COSMIC: COSM6379449 ; COSM6379450
• MyVariant Identifiers: chr2:g.241661953C>T (hg19) ; chr2:g.240722536C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240722536C>T , CM000664.2:g.240722536C>T	GRCh38
NC_000002.11:g.241661953C>T , CM000664.1:g.241661953C>T	GRCh37
NC_000002.10:g.241310626C>T	NCBI36
NG_029724.1:g.102672G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320389.12:c.4306G>A	ENSP00000322791.8:p.Ala1436Thr
ENST00000404283.9:c.4609G>A	ENSP00000384231.5:p.Ala1537Thr
ENST00000431776.6:c.1405G>A	ENSP00000414613.2:p.Ala469Thr
ENST00000465813.2:n.145G>A
ENST00000492812.6:n.3168G>A
ENST00000498729.9:c.4585G>A MANE Select	ENSP00000438388.1:p.Ala1529Thr
ENST00000647731.1:c.4309G>A	ENSP00000498099.1:p.Ala1437Thr
ENST00000647885.1:c.4396G>A	ENSP00000497739.1:p.Ala1466Thr
ENST00000648047.1:c.3544G>A	ENSP00000497935.1:p.Ala1182Thr
ENST00000648129.1:c.4558G>A	ENSP00000497293.1:p.Ala1520Thr
ENST00000648364.1:c.4309G>A	ENSP00000498196.1:p.Ala1437Thr
ENST00000648680.1:c.4336G>A	ENSP00000497586.1:p.Ala1446Thr
ENST00000649096.1:c.4282G>A	ENSP00000497030.1:p.Ala1428Thr
ENST00000649190.1:n.3579G>A
ENST00000649306.1:c.4384G>A	ENSP00000497678.1:p.Ala1462Thr
ENST00000650053.1:c.4282G>A	ENSP00000497824.1:p.Ala1428Thr
ENST00000650130.1:c.4558G>A	ENSP00000498082.1:p.Ala1520Thr
ENST00000650430.1:n.3657G>A
ENST00000320389.11:c.4282G>A	ENSP00000322791.7:p.Ala1428Thr
ENST00000460788.5:n.1142G>A
ENST00000465813.1:n.123G>A
ENST00000492812.5:n.1057G>A
ENST00000498729.6:c.4585G>A	ENSP00000438388.1:p.Ala1529Thr
NM_001244008.1:c.4585G>A	NP_001230937.1:p.Ala1529Thr
NM_004321.6:c.4282G>A	NP_004312.2:p.Ala1428Thr
XM_005247022.1:c.4612G>A	XP_005247079.1:p.Ala1538Thr
XM_005247023.1:c.4609G>A	XP_005247080.1:p.Ala1537Thr
XM_005247024.1:c.4585G>A	XP_005247081.1:p.Ala1529Thr
XM_005247026.1:c.4309G>A	XP_005247083.1:p.Ala1437Thr
XM_005247027.1:c.4306G>A	XP_005247084.1:p.Ala1436Thr
XM_005247028.1:c.4282G>A	XP_005247085.1:p.Ala1428Thr
XM_006712605.1:c.4558G>A	XP_006712668.1:p.Ala1520Thr
XM_011511364.1:c.4612G>A	XP_011509666.1:p.Ala1538Thr
XM_011511365.1:c.4336G>A	XP_011509667.1:p.Ala1446Thr
XM_011511366.1:c.3607G>A	XP_011509668.1:p.Ala1203Thr
XM_011511367.1:c.3607G>A	XP_011509669.1:p.Ala1203Thr
NM_001320705.1:c.4309G>A	NP_001307634.1:p.Ala1437Thr
NM_001330289.1:c.4336G>A	NP_001317218.1:p.Ala1446Thr
NM_001330290.1:c.4384G>A	NP_001317219.1:p.Ala1462Thr
NM_004321.7:c.4282G>A	NP_004312.2:p.Ala1428Thr
NM_001320705.2:c.4309G>A	NP_001307634.1:p.Ala1437Thr
NM_001330289.2:c.4336G>A	NP_001317218.1:p.Ala1446Thr
NM_001330290.2:c.4384G>A	NP_001317219.1:p.Ala1462Thr
NM_001244008.2:c.4585G>A MANE Select	NP_001230937.1:p.Ala1529Thr
NM_001379631.1:c.4660G>A	NP_001366560.1:p.Ala1554Thr
NM_001379632.1:c.4561G>A	NP_001366561.1:p.Ala1521Thr
NM_001379633.1:c.4558G>A	NP_001366562.1:p.Ala1520Thr
NM_001379634.1:c.4411G>A	NP_001366563.1:p.Ala1471Thr
NM_001379635.1:c.4408G>A	NP_001366564.1:p.Ala1470Thr
NM_001379636.1:c.4396G>A	NP_001366565.1:p.Ala1466Thr
NM_001379637.1:c.4357G>A	NP_001366566.1:p.Ala1453Thr
NM_001379638.1:c.4333G>A	NP_001366567.1:p.Ala1445Thr
NM_001379639.1:c.4306G>A	NP_001366568.1:p.Ala1436Thr
NM_001379640.1:c.4279G>A	NP_001366569.1:p.Ala1427Thr
NM_001379641.1:c.4282G>A	NP_001366570.1:p.Ala1428Thr
NM_001379642.1:c.4585G>A	NP_001366571.1:p.Ala1529Thr
NM_001379645.1:c.4558G>A	NP_001366574.1:p.Ala1520Thr
NM_001379646.1:c.4408G>A	NP_001366575.1:p.Ala1470Thr
NM_001379648.1:c.4384G>A	NP_001366577.1:p.Ala1462Thr
NM_001379649.1:c.4309G>A	NP_001366578.1:p.Ala1437Thr
NM_001379650.1:c.4282G>A	NP_001366579.1:p.Ala1428Thr
NM_001379651.1:c.4282G>A	NP_001366580.1:p.Ala1428Thr
NM_001379653.1:c.4282G>A	NP_001366582.1:p.Ala1428Thr
NM_004321.8:c.4282G>A	NP_004312.2:p.Ala1428Thr