Canonical Allele Identifier: CA581630

Gene: KIF1B

Linked Data

• ClinVar Variation Id: 291563
• ClinVar RCV Id: RCV000398106 ; RCV000473972
• dbSNP Id: rs150831576
• ExAC: 1:10386367 C / T
• gnomAD v2: 1-10386367-C-T
• gnomAD v3: 1-10326309-C-T
• gnomAD v4: 1-10326309-C-T
• MyVariant Identifiers: chr1:g.10386367C>T (hg19) ; chr1:g.10326309C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10326309C>T , CM000663.2:g.10326309C>T	GRCh38
NC_000001.10:g.10386367C>T , CM000663.1:g.10386367C>T	GRCh37
NC_000001.9:g.10308954C>T	NCBI36
NG_008069.1:g.120604C>T , LRG_252:g.120604C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696502.1:c.2736C>T	ENSP00000512668.1:p.Asp912=
ENST00000696503.1:c.2799C>T	ENSP00000512669.1:p.Asp933=
ENST00000696504.1:c.2799C>T	ENSP00000512670.1:p.Asp933=
ENST00000676179.1:c.2874C>T MANE Select	ENSP00000502065.1:p.Asp958=
ENST00000263934.10:c.2736C>T	ENSP00000263934.6:p.Asp912=
ENST00000377081.5:c.2874C>T	ENSP00000366284.1:p.Asp958=
ENST00000377086.5:c.2874C>T	ENSP00000366290.1:p.Asp958=
ENST00000620295.2:c.2832C>T	ENSP00000478500.1:p.Asp944=
ENST00000622724.3:c.2796C>T	ENSP00000480063.1:p.Asp932=
NM_015074.3:c.2736C>T , LRG_252t1:c.2736C>T	NP_055889.2:p.Asp912=
NM_001365951.1:c.2874C>T	NP_001352880.1:p.Asp958=
NM_001365952.1:c.2874C>T	NP_001352881.1:p.Asp958=
NM_001365951.3:c.2874C>T MANE Select	NP_001352880.1:p.Asp958=