Canonical Allele Identifier: CA582360

Gene: KIF1B

Linked Data

• ClinVar Variation Id: 291585
• ClinVar RCV Id: RCV000292329 ; RCV001174220 ; RCV002059318
• dbSNP Id: rs148690591
• ExAC: 1:10436647 T / C
• gnomAD v2: 1-10436647-T-C
• gnomAD v3: 1-10376589-T-C
• gnomAD v4: 1-10376589-T-C
• MyVariant Identifiers: chr1:g.10436647T>C (hg19) ; chr1:g.10376589T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10376589T>C , CM000663.2:g.10376589T>C	GRCh38
NC_000001.10:g.10436647T>C , CM000663.1:g.10436647T>C	GRCh37
NC_000001.9:g.10359234T>C	NCBI36
NG_008069.1:g.170884T>C , LRG_252:g.170884T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696502.1:c.*2T>C	ENSP00000512668.1:n.*2T>C
ENST00000696503.1:c.*2T>C	ENSP00000512669.1:n.*2T>C
ENST00000696504.1:c.*2T>C	ENSP00000512670.1:n.*2T>C
ENST00000676179.1:c.*2T>C MANE Select	ENSP00000502065.1:n.*2T>C
ENST00000263934.10:c.*2T>C	ENSP00000263934.6:n.*2T>C
ENST00000377081.5:c.5408+1216T>C	ENSP00000366284.1:n.5408+1216T>C
ENST00000377086.5:c.*2T>C	ENSP00000366290.1:n.*2T>C
ENST00000620295.2:c.5366+1216T>C	ENSP00000478500.1:n.5366+1216T>C
ENST00000622724.3:c.5330+1216T>C	ENSP00000480063.1:n.5330+1216T>C
ENST00000635499.1:c.1498T>C
NM_015074.3:c.*2T>C , LRG_252t1:c.*2T>C	NP_055889.2:n.*2T>C
NM_001365951.1:c.*2T>C	NP_001352880.1:n.*2T>C
NM_001365952.1:c.*2T>C	NP_001352881.1:n.*2T>C
NM_001365951.3:c.*2T>C MANE Select	NP_001352880.1:n.*2T>C