Canonical Allele Identifier: CA581219

Gene: KIF1B

Linked Data

• dbSNP Id: rs769611274
• ExAC: 1:10363518 A / G
• gnomAD v2: 1-10363518-A-G
• gnomAD v3: 1-10303460-A-G
• gnomAD v4: 1-10303460-A-G
• MyVariant Identifiers: chr1:g.10363518A>G (hg19) ; chr1:g.10303460A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10303460A>G , CM000663.2:g.10303460A>G	GRCh38
NC_000001.10:g.10363518A>G , CM000663.1:g.10363518A>G	GRCh37
NC_000001.9:g.10286105A>G	NCBI36
NG_008069.1:g.97755A>G , LRG_252:g.97755A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696500.1:c.*1447A>G	ENSP00000512666.1:n.*1447A>G
ENST00000696502.1:c.1977+6214A>G	ENSP00000512668.1:n.1977+6214A>G
ENST00000696503.1:c.2040+6214A>G	ENSP00000512669.1:n.2040+6214A>G
ENST00000696504.1:c.2040+6214A>G	ENSP00000512670.1:n.2040+6214A>G
ENST00000377093.9:c.2275A>G	ENSP00000366297.4:p.Ile759Val
ENST00000676179.1:c.2115+6214A>G MANE Select	ENSP00000502065.1:n.2115+6214A>G
ENST00000263934.10:c.1977+6214A>G	ENSP00000263934.6:n.1977+6214A>G
ENST00000377081.5:c.2115+6214A>G	ENSP00000366284.1:n.2115+6214A>G
ENST00000377083.5:c.2275A>G	ENSP00000366287.1:p.Ile759Val
ENST00000377086.5:c.2115+6214A>G	ENSP00000366290.1:n.2115+6214A>G
ENST00000377093.8:c.2275A>G	ENSP00000366297.4:p.Ile759Val
ENST00000620295.2:c.2073+6214A>G	ENSP00000478500.1:n.2073+6214A>G
ENST00000622724.3:c.2037+6214A>G	ENSP00000480063.1:n.2037+6214A>G
NM_015074.3:c.1977+6214A>G , LRG_252t1:c.1977+6214A>G	NP_055889.2:n.1977+6214A>G
NM_183416.3:c.2275A>G	NP_904325.2:p.Ile759Val
NM_001365951.1:c.2115+6214A>G	NP_001352880.1:n.2115+6214A>G
NM_001365952.1:c.2115+6214A>G	NP_001352881.1:n.2115+6214A>G
NM_001365953.1:c.2275A>G	NP_001352882.1:p.Ile759Val
NM_001365951.3:c.2115+6214A>G MANE Select	NP_001352880.1:n.2115+6214A>G
NM_183416.4:c.2275A>G	NP_904325.2:p.Ile759Val