Canonical Allele Identifier: CA10604534

Gene: KIF1B

Linked Data

• ClinVar Variation Id: 283613
• ClinVar RCV Id: RCV000395243 ; RCV002468573 ; RCV003743695
• dbSNP Id: rs886042662
• gnomAD v4: 1-10336692-C-T
• MyVariant Identifiers: chr1:g.10396750C>T (hg19) ; chr1:g.10336692C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10336692C>T , CM000663.2:g.10336692C>T	GRCh38
NC_000001.10:g.10396750C>T , CM000663.1:g.10396750C>T	GRCh37
NC_000001.9:g.10319337C>T	NCBI36
NG_008069.1:g.130987C>T , LRG_252:g.130987C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696502.1:c.2941C>T	ENSP00000512668.1:p.Arg981Ter
ENST00000696503.1:c.3004C>T	ENSP00000512669.1:p.Arg1002Ter
ENST00000696504.1:c.3004C>T	ENSP00000512670.1:p.Arg1002Ter
ENST00000676179.1:c.3079C>T MANE Select	ENSP00000502065.1:p.Arg1027Ter
ENST00000263934.10:c.2941C>T	ENSP00000263934.6:p.Arg981Ter
ENST00000377081.5:c.3079C>T	ENSP00000366284.1:p.Arg1027Ter
ENST00000377086.5:c.3079C>T	ENSP00000366290.1:p.Arg1027Ter
ENST00000620295.2:c.3037C>T	ENSP00000478500.1:p.Arg1013Ter
ENST00000622724.3:c.3001C>T	ENSP00000480063.1:p.Arg1001Ter
NM_015074.3:c.2941C>T , LRG_252t1:c.2941C>T	NP_055889.2:p.Arg981Ter
NM_001365951.1:c.3079C>T	NP_001352880.1:p.Arg1027Ter
NM_001365952.1:c.3079C>T	NP_001352881.1:p.Arg1027Ter
NM_001365951.3:c.3079C>T MANE Select	NP_001352880.1:p.Arg1027Ter