Canonical Allele Identifier: CA2207239

Gene: KIF1A

Linked Data

• ClinVar Variation Id: 447657
• ClinVar RCV Id: RCV000517273 ; RCV000639790 ; RCV000718224 ; RCV000764391
• dbSNP Id: rs376658420
• ExAC: 2:241659257 C / T
• gnomAD v2: 2-241659257-C-T
• gnomAD v3: 2-240719840-C-T
• gnomAD v4: 2-240719840-C-T
• MyVariant Identifiers: chr2:g.241659257C>T (hg19) ; chr2:g.240719840C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240719840C>T , CM000664.2:g.240719840C>T	GRCh38
NC_000002.11:g.241659257C>T , CM000664.1:g.241659257C>T	GRCh37
NC_000002.10:g.241307930C>T	NCBI36
NG_029724.1:g.105368G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320389.12:c.4676G>A	ENSP00000322791.8:p.Arg1559Gln
ENST00000404283.9:c.4979G>A	ENSP00000384231.5:p.Arg1660Gln
ENST00000431776.6:c.1775G>A	ENSP00000414613.2:p.Arg592Gln
ENST00000492812.6:n.3538G>A
ENST00000498729.9:c.4955G>A MANE Select	ENSP00000438388.1:p.Arg1652Gln
ENST00000647731.1:c.4679G>A	ENSP00000498099.1:p.Arg1560Gln
ENST00000647885.1:c.4766G>A	ENSP00000497739.1:p.Arg1589Gln
ENST00000648047.1:c.3914G>A	ENSP00000497935.1:p.Arg1305Gln
ENST00000648129.1:c.4928G>A	ENSP00000497293.1:p.Arg1643Gln
ENST00000648364.1:c.4679G>A	ENSP00000498196.1:p.Arg1560Gln
ENST00000648680.1:c.4706G>A	ENSP00000497586.1:p.Arg1569Gln
ENST00000649096.1:c.4652G>A	ENSP00000497030.1:p.Arg1551Gln
ENST00000649190.1:n.3949G>A
ENST00000649306.1:c.4754G>A	ENSP00000497678.1:p.Arg1585Gln
ENST00000650053.1:c.4652G>A	ENSP00000497824.1:p.Arg1551Gln
ENST00000650130.1:c.4928G>A	ENSP00000498082.1:p.Arg1643Gln
ENST00000650430.1:n.4027G>A
ENST00000675644.1:c.377G>A	ENSP00000502435.1:n.377G>A
ENST00000675932.1:c.232G>A	ENSP00000502786.1:p.Gly78Arg
ENST00000320389.11:c.4652G>A	ENSP00000322791.7:p.Arg1551Gln
ENST00000460788.5:n.1512G>A
ENST00000488776.1:n.446G>A
ENST00000492812.5:n.1427G>A
ENST00000498729.6:c.4955G>A	ENSP00000438388.1:p.Arg1652Gln
NM_001244008.1:c.4955G>A	NP_001230937.1:p.Arg1652Gln
NM_004321.6:c.4652G>A	NP_004312.2:p.Arg1551Gln
XM_005247022.1:c.4982G>A	XP_005247079.1:p.Arg1661Gln
XM_005247023.1:c.4979G>A	XP_005247080.1:p.Arg1660Gln
XM_005247024.1:c.4955G>A	XP_005247081.1:p.Arg1652Gln
XM_005247026.1:c.4679G>A	XP_005247083.1:p.Arg1560Gln
XM_005247027.1:c.4676G>A	XP_005247084.1:p.Arg1559Gln
XM_005247028.1:c.4652G>A	XP_005247085.1:p.Arg1551Gln
XM_006712605.1:c.4928G>A	XP_006712668.1:p.Arg1643Gln
XM_011511364.1:c.4982G>A	XP_011509666.1:p.Arg1661Gln
XM_011511365.1:c.4706G>A	XP_011509667.1:p.Arg1569Gln
XM_011511366.1:c.3977G>A	XP_011509668.1:p.Arg1326Gln
XM_011511367.1:c.3977G>A	XP_011509669.1:p.Arg1326Gln
NM_001320705.1:c.4679G>A	NP_001307634.1:p.Arg1560Gln
NM_001330289.1:c.4706G>A	NP_001317218.1:p.Arg1569Gln
NM_001330290.1:c.4754G>A	NP_001317219.1:p.Arg1585Gln
NM_004321.7:c.4652G>A	NP_004312.2:p.Arg1551Gln
NM_001320705.2:c.4679G>A	NP_001307634.1:p.Arg1560Gln
NM_001330289.2:c.4706G>A	NP_001317218.1:p.Arg1569Gln
NM_001330290.2:c.4754G>A	NP_001317219.1:p.Arg1585Gln
NM_001244008.2:c.4955G>A MANE Select	NP_001230937.1:p.Arg1652Gln
NM_001379631.1:c.5030G>A	NP_001366560.1:p.Arg1677Gln
NM_001379632.1:c.4931G>A	NP_001366561.1:p.Arg1644Gln
NM_001379633.1:c.4928G>A	NP_001366562.1:p.Arg1643Gln
NM_001379634.1:c.4781G>A	NP_001366563.1:p.Arg1594Gln
NM_001379635.1:c.4778G>A	NP_001366564.1:p.Arg1593Gln
NM_001379636.1:c.4766G>A	NP_001366565.1:p.Arg1589Gln
NM_001379637.1:c.4727G>A	NP_001366566.1:p.Arg1576Gln
NM_001379638.1:c.4703G>A	NP_001366567.1:p.Arg1568Gln
NM_001379639.1:c.4676G>A	NP_001366568.1:p.Arg1559Gln
NM_001379640.1:c.4649G>A	NP_001366569.1:p.Arg1550Gln
NM_001379641.1:c.4652G>A	NP_001366570.1:p.Arg1551Gln
NM_001379642.1:c.4955G>A	NP_001366571.1:p.Arg1652Gln
NM_001379645.1:c.4928G>A	NP_001366574.1:p.Arg1643Gln
NM_001379646.1:c.4778G>A	NP_001366575.1:p.Arg1593Gln
NM_001379648.1:c.4754G>A	NP_001366577.1:p.Arg1585Gln
NM_001379649.1:c.4679G>A	NP_001366578.1:p.Arg1560Gln
NM_001379650.1:c.4652G>A	NP_001366579.1:p.Arg1551Gln
NM_001379651.1:c.4652G>A	NP_001366580.1:p.Arg1551Gln
NM_001379653.1:c.4652G>A	NP_001366582.1:p.Arg1551Gln
NM_004321.8:c.4652G>A	NP_004312.2:p.Arg1551Gln