Canonical Allele Identifier: CA351301390

Gene: KIF1A

Linked Data

• ClinVar Variation Id: 532856
• ClinVar RCV Id: RCV000639772
• dbSNP Id: rs1553624714
• MyVariant Identifiers: chr2:g.241660330C>G (hg19) ; chr2:g.240720913C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240720913C>G , CM000664.2:g.240720913C>G	GRCh38
NC_000002.11:g.241660330C>G , CM000664.1:g.241660330C>G	GRCh37
NC_000002.10:g.241309003C>G	NCBI36
NG_029724.1:g.104295G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000320389.12:c.4589+1G>C	ENSP00000322791.8:n.4589+1G>C
ENST00000404283.9:c.4892+1G>C	ENSP00000384231.5:n.4892+1G>C
ENST00000431776.6:c.1688+1G>C	ENSP00000414613.2:n.1688+1G>C
ENST00000465813.2:n.429G>C
ENST00000492812.6:n.3451+1G>C
ENST00000498729.9:c.4868+1G>C MANE Select	ENSP00000438388.1:n.4868+1G>C
ENST00000647731.1:c.4592+1G>C	ENSP00000498099.1:n.4592+1G>C
ENST00000647885.1:c.4679+1G>C	ENSP00000497739.1:n.4679+1G>C
ENST00000648047.1:c.3827+1G>C	ENSP00000497935.1:n.3827+1G>C
ENST00000648129.1:c.4841+1G>C	ENSP00000497293.1:n.4841+1G>C
ENST00000648364.1:c.4592+1G>C	ENSP00000498196.1:n.4592+1G>C
ENST00000648680.1:c.4619+1G>C	ENSP00000497586.1:n.4619+1G>C
ENST00000649096.1:c.4565+1G>C	ENSP00000497030.1:n.4565+1G>C
ENST00000649190.1:n.3862+1G>C
ENST00000649306.1:c.4667+1G>C	ENSP00000497678.1:n.4667+1G>C
ENST00000650053.1:c.4565+1G>C	ENSP00000497824.1:n.4565+1G>C
ENST00000650130.1:c.4841+1G>C	ENSP00000498082.1:n.4841+1G>C
ENST00000650430.1:n.3940+1G>C
ENST00000675644.1:c.125+1G>C	ENSP00000502435.1:n.125+1G>C
ENST00000675932.1:c.125+1G>C	ENSP00000502786.1:n.125+1G>C
ENST00000320389.11:c.4565+1G>C	ENSP00000322791.7:n.4565+1G>C
ENST00000460788.5:n.1425+1G>C
ENST00000465813.1:n.407G>C
ENST00000492812.5:n.1340+1G>C
ENST00000498729.6:c.4868+1G>C	ENSP00000438388.1:n.4868+1G>C
NM_001244008.1:c.4868+1G>C	NP_001230937.1:n.4868+1G>C
NM_004321.6:c.4565+1G>C	NP_004312.2:n.4565+1G>C
XM_005247022.1:c.4895+1G>C	XP_005247079.1:n.4895+1G>C
XM_005247023.1:c.4892+1G>C	XP_005247080.1:n.4892+1G>C
XM_005247024.1:c.4868+1G>C	XP_005247081.1:n.4868+1G>C
XM_005247026.1:c.4592+1G>C	XP_005247083.1:n.4592+1G>C
XM_005247027.1:c.4589+1G>C	XP_005247084.1:n.4589+1G>C
XM_005247028.1:c.4565+1G>C	XP_005247085.1:n.4565+1G>C
XM_006712605.1:c.4841+1G>C	XP_006712668.1:n.4841+1G>C
XM_011511364.1:c.4895+1G>C	XP_011509666.1:n.4895+1G>C
XM_011511365.1:c.4619+1G>C	XP_011509667.1:n.4619+1G>C
XM_011511366.1:c.3890+1G>C	XP_011509668.1:n.3890+1G>C
XM_011511367.1:c.3890+1G>C	XP_011509669.1:n.3890+1G>C
NM_001320705.1:c.4592+1G>C	NP_001307634.1:n.4592+1G>C
NM_001330289.1:c.4619+1G>C	NP_001317218.1:n.4619+1G>C
NM_001330290.1:c.4667+1G>C	NP_001317219.1:n.4667+1G>C
NM_004321.7:c.4565+1G>C	NP_004312.2:n.4565+1G>C
NM_001320705.2:c.4592+1G>C	NP_001307634.1:n.4592+1G>C
NM_001330289.2:c.4619+1G>C	NP_001317218.1:n.4619+1G>C
NM_001330290.2:c.4667+1G>C	NP_001317219.1:n.4667+1G>C
NM_001244008.2:c.4868+1G>C MANE Select	NP_001230937.1:n.4868+1G>C
NM_001379631.1:c.4943+1G>C	NP_001366560.1:n.4943+1G>C
NM_001379632.1:c.4844+1G>C	NP_001366561.1:n.4844+1G>C
NM_001379633.1:c.4841+1G>C	NP_001366562.1:n.4841+1G>C
NM_001379634.1:c.4694+1G>C	NP_001366563.1:n.4694+1G>C
NM_001379635.1:c.4691+1G>C	NP_001366564.1:n.4691+1G>C
NM_001379636.1:c.4679+1G>C	NP_001366565.1:n.4679+1G>C
NM_001379637.1:c.4640+1G>C	NP_001366566.1:n.4640+1G>C
NM_001379638.1:c.4616+1G>C	NP_001366567.1:n.4616+1G>C
NM_001379639.1:c.4589+1G>C	NP_001366568.1:n.4589+1G>C
NM_001379640.1:c.4562+1G>C	NP_001366569.1:n.4562+1G>C
NM_001379641.1:c.4565+1G>C	NP_001366570.1:n.4565+1G>C
NM_001379642.1:c.4868+1G>C	NP_001366571.1:n.4868+1G>C
NM_001379645.1:c.4841+1G>C	NP_001366574.1:n.4841+1G>C
NM_001379646.1:c.4691+1G>C	NP_001366575.1:n.4691+1G>C
NM_001379648.1:c.4667+1G>C	NP_001366577.1:n.4667+1G>C
NM_001379649.1:c.4592+1G>C	NP_001366578.1:n.4592+1G>C
NM_001379650.1:c.4565+1G>C	NP_001366579.1:n.4565+1G>C
NM_001379651.1:c.4565+1G>C	NP_001366580.1:n.4565+1G>C
NM_001379653.1:c.4565+1G>C	NP_001366582.1:n.4565+1G>C
NM_004321.8:c.4565+1G>C	NP_004312.2:n.4565+1G>C