Canonical Allele Identifier: CA581032

Gene: KIF1B

Linked Data

• ClinVar Variation Id: 476778
• ClinVar RCV Id: RCV000527411 ; RCV001173593 ; RCV003133359 ; RCV004024379 ; RCV003485606
• dbSNP Id: rs201500946
• ExAC: 1:10355147 C / G
• gnomAD v2: 1-10355147-C-G
• gnomAD v3: 1-10295089-C-G
• gnomAD v4: 1-10295089-C-G
• MyVariant Identifiers: chr1:g.10355147C>G (hg19) ; chr1:g.10295089C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10295089C>G , CM000663.2:g.10295089C>G	GRCh38
NC_000001.10:g.10355147C>G , CM000663.1:g.10355147C>G	GRCh37
NC_000001.9:g.10277734C>G	NCBI36
NG_008069.1:g.89384C>G , LRG_252:g.89384C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696500.1:c.*628C>G	ENSP00000512666.1:n.*628C>G
ENST00000696502.1:c.1456C>G	ENSP00000512668.1:p.Pro486Ala
ENST00000696503.1:c.1519C>G	ENSP00000512669.1:p.Pro507Ala
ENST00000696504.1:c.1519C>G	ENSP00000512670.1:p.Pro507Ala
ENST00000377093.9:c.1456C>G	ENSP00000366297.4:p.Pro486Ala
ENST00000676179.1:c.1594C>G MANE Select	ENSP00000502065.1:p.Pro532Ala
ENST00000263934.10:c.1456C>G	ENSP00000263934.6:p.Pro486Ala
ENST00000377081.5:c.1594C>G	ENSP00000366284.1:p.Pro532Ala
ENST00000377083.5:c.1456C>G	ENSP00000366287.1:p.Pro486Ala
ENST00000377086.5:c.1594C>G	ENSP00000366290.1:p.Pro532Ala
ENST00000377093.8:c.1456C>G	ENSP00000366297.4:p.Pro486Ala
ENST00000620295.2:c.1552C>G	ENSP00000478500.1:p.Pro518Ala
ENST00000622724.3:c.1516C>G	ENSP00000480063.1:p.Pro506Ala
NM_015074.3:c.1456C>G , LRG_252t1:c.1456C>G	NP_055889.2:p.Pro486Ala
NM_183416.3:c.1456C>G	NP_904325.2:p.Pro486Ala
NM_001365951.1:c.1594C>G	NP_001352880.1:p.Pro532Ala
NM_001365952.1:c.1594C>G	NP_001352881.1:p.Pro532Ala
NM_001365953.1:c.1456C>G	NP_001352882.1:p.Pro486Ala
NM_001365951.3:c.1594C>G MANE Select	NP_001352880.1:p.Pro532Ala
NM_183416.4:c.1456C>G	NP_904325.2:p.Pro486Ala