Canonical Allele Identifier: CA521139368

Gene: KIF1B

Linked Data

• dbSNP Id: rs1414536803
• gnomAD v2: 1-10438710-G-A
• gnomAD v3: 1-10378652-G-A
• gnomAD v4: 1-10378652-G-A
• MyVariant Identifiers: chr1:g.10438710G>A (hg19) ; chr1:g.10378652G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10378652G>A , CM000663.2:g.10378652G>A	GRCh38
NC_000001.10:g.10438710G>A , CM000663.1:g.10438710G>A	GRCh37
NC_000001.9:g.10361297G>A	NCBI36
NG_008069.1:g.172947G>A , LRG_252:g.172947G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000676179.1:c.*2065G>A MANE Select	ENSP00000502065.1:n.*2065G>A
ENST00000377081.5:c.*250G>A	ENSP00000366284.1:n.*250G>A
ENST00000377086.5:c.*2065G>A	ENSP00000366290.1:n.*2065G>A
ENST00000620295.2:c.5680G>A	ENSP00000478500.1:n.5680G>A
ENST00000622724.3:c.5644G>A	ENSP00000480063.1:n.5644G>A
NM_015074.3:c.*2065G>A , LRG_252t1:c.*2065G>A	NP_055889.2:n.*2065G>A
NM_001365951.1:c.*2065G>A	NP_001352880.1:n.*2065G>A
NM_001365952.1:c.*2065G>A	NP_001352881.1:n.*2065G>A
NM_001365951.3:c.*2065G>A MANE Select	NP_001352880.1:n.*2065G>A