Canonical Allele Identifier: CA580614

Gene: KIF1B

Linked Data

• ClinVar Variation Id: 291464
• ClinVar RCV Id: RCV000287514 ; RCV001699285 ; RCV002518172 ; RCV003977816
• dbSNP Id: rs749389756
• ExAC: 1:10316297 T / A
• gnomAD v2: 1-10316297-T-A
• gnomAD v3: 1-10256239-T-A
• gnomAD v4: 1-10256239-T-A
• MyVariant Identifiers: chr1:g.10316297T>A (hg19) ; chr1:g.10256239T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10256239T>A , CM000663.2:g.10256239T>A	GRCh38
NC_000001.10:g.10316297T>A , CM000663.1:g.10316297T>A	GRCh37
NC_000001.9:g.10238884T>A	NCBI36
NG_008069.1:g.50534T>A , LRG_252:g.50534T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696500.1:c.107-8T>A	ENSP00000512666.1:n.107-8T>A
ENST00000696501.1:c.107-8T>A	ENSP00000512667.1:n.107-8T>A
ENST00000696502.1:c.107-8T>A	ENSP00000512668.1:n.107-8T>A
ENST00000696503.1:c.107-8T>A	ENSP00000512669.1:n.107-8T>A
ENST00000696504.1:c.107-8T>A	ENSP00000512670.1:n.107-8T>A
ENST00000696505.1:c.*63-8T>A	ENSP00000512671.1:n.*63-8T>A
ENST00000696506.1:c.107-8T>A	ENSP00000512672.1:n.107-8T>A
ENST00000377093.9:c.107-8T>A	ENSP00000366297.4:n.107-8T>A
ENST00000676179.1:c.107-8T>A MANE Select	ENSP00000502065.1:n.107-8T>A
ENST00000263934.10:c.107-8T>A	ENSP00000263934.6:n.107-8T>A
ENST00000377081.5:c.107-8T>A	ENSP00000366284.1:n.107-8T>A
ENST00000377083.5:c.107-8T>A	ENSP00000366287.1:n.107-8T>A
ENST00000377086.5:c.107-8T>A	ENSP00000366290.1:n.107-8T>A
ENST00000377093.8:c.107-8T>A	ENSP00000366297.4:n.107-8T>A
ENST00000620295.2:c.107-8T>A	ENSP00000478500.1:n.107-8T>A
ENST00000622724.3:c.107-8T>A	ENSP00000480063.1:n.107-8T>A
NM_015074.3:c.107-8T>A , LRG_252t1:c.107-8T>A	NP_055889.2:n.107-8T>A
NM_183416.3:c.107-8T>A	NP_904325.2:n.107-8T>A
NM_001365951.1:c.107-8T>A	NP_001352880.1:n.107-8T>A
NM_001365952.1:c.107-8T>A	NP_001352881.1:n.107-8T>A
NM_001365953.1:c.107-8T>A	NP_001352882.1:n.107-8T>A
NM_001365951.3:c.107-8T>A MANE Select	NP_001352880.1:n.107-8T>A
NM_183416.4:c.107-8T>A	NP_904325.2:n.107-8T>A