Canonical Allele Identifier: CA17813567

Gene: KIF1B

Linked Data

• ClinVar Variation Id: 1777207
• ClinVar RCV Id: RCV002403625 ; RCV003100771
• dbSNP Id: rs938537402
• gnomAD v2: 1-10356649-C-T
• gnomAD v3: 1-10296591-C-T
• gnomAD v4: 1-10296591-C-T
• MyVariant Identifiers: chr1:g.10356649C>T (hg19) ; chr1:g.10296591C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10296591C>T , CM000663.2:g.10296591C>T	GRCh38
NC_000001.10:g.10356649C>T , CM000663.1:g.10356649C>T	GRCh37
NC_000001.9:g.10279236C>T	NCBI36
NG_008069.1:g.90886C>T , LRG_252:g.90886C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000696500.1:c.*821C>T	ENSP00000512666.1:n.*821C>T
ENST00000696502.1:c.1649C>T	ENSP00000512668.1:p.Thr550Ile
ENST00000696503.1:c.1712C>T	ENSP00000512669.1:p.Thr571Ile
ENST00000696504.1:c.1712C>T	ENSP00000512670.1:p.Thr571Ile
ENST00000377093.9:c.1649C>T	ENSP00000366297.4:p.Thr550Ile
ENST00000676179.1:c.1787C>T MANE Select	ENSP00000502065.1:p.Thr596Ile
ENST00000263934.10:c.1649C>T	ENSP00000263934.6:p.Thr550Ile
ENST00000377081.5:c.1787C>T	ENSP00000366284.1:p.Thr596Ile
ENST00000377083.5:c.1649C>T	ENSP00000366287.1:p.Thr550Ile
ENST00000377086.5:c.1787C>T	ENSP00000366290.1:p.Thr596Ile
ENST00000377093.8:c.1649C>T	ENSP00000366297.4:p.Thr550Ile
ENST00000620295.2:c.1745C>T	ENSP00000478500.1:p.Thr582Ile
ENST00000622724.3:c.1709C>T	ENSP00000480063.1:p.Thr570Ile
NM_015074.3:c.1649C>T , LRG_252t1:c.1649C>T	NP_055889.2:p.Thr550Ile
NM_183416.3:c.1649C>T	NP_904325.2:p.Thr550Ile
NM_001365951.1:c.1787C>T	NP_001352880.1:p.Thr596Ile
NM_001365952.1:c.1787C>T	NP_001352881.1:p.Thr596Ile
NM_001365953.1:c.1649C>T	NP_001352882.1:p.Thr550Ile
NM_001365951.3:c.1787C>T MANE Select	NP_001352880.1:p.Thr596Ile
NM_183416.4:c.1649C>T	NP_904325.2:p.Thr550Ile