Canonical Allele Identifier: CA338342262

Gene: KIF1B

Linked Data

• dbSNP Id: rs1177367315
• gnomAD v2: 1-10405912-C-T
• gnomAD v4: 1-10345854-C-T
• MyVariant Identifiers: chr1:g.10405912C>T (hg19) ; chr1:g.10345854C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10345854C>T , CM000663.2:g.10345854C>T	GRCh38
NC_000001.10:g.10405912C>T , CM000663.1:g.10405912C>T	GRCh37
NC_000001.9:g.10328499C>T	NCBI36
NG_008069.1:g.140149C>T , LRG_252:g.140149C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696502.1:c.3761C>T	ENSP00000512668.1:p.Thr1254Ile
ENST00000696503.1:c.3623C>T	ENSP00000512669.1:p.Thr1208Ile
ENST00000696504.1:c.3623C>T	ENSP00000512670.1:p.Thr1208Ile
ENST00000676179.1:c.3698C>T MANE Select	ENSP00000502065.1:p.Thr1233Ile
ENST00000263934.10:c.3560C>T	ENSP00000263934.6:p.Thr1187Ile
ENST00000377081.5:c.3698C>T	ENSP00000366284.1:p.Thr1233Ile
ENST00000377086.5:c.3698C>T	ENSP00000366290.1:p.Thr1233Ile
ENST00000465635.5:n.153C>T
ENST00000483340.1:n.234C>T
ENST00000620295.2:c.3656C>T	ENSP00000478500.1:p.Thr1219Ile
ENST00000622724.3:c.3620C>T	ENSP00000480063.1:p.Thr1207Ile
NM_015074.3:c.3560C>T , LRG_252t1:c.3560C>T	NP_055889.2:p.Thr1187Ile
NM_001365951.1:c.3698C>T	NP_001352880.1:p.Thr1233Ile
NM_001365952.1:c.3698C>T	NP_001352881.1:p.Thr1233Ile
NM_001365951.3:c.3698C>T MANE Select	NP_001352880.1:p.Thr1233Ile