Canonical Allele Identifier: CA415884462
Gene: KIF1B HGNC NCBI

Linked Data

dbSNP Id: rs1557727866
gnomAD v4: 1-10345913-C-T
MyVariant Identifiers: chr1:g.10405971C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10345913C>T , CM000663.2:g.10345913C>T GRCh38
NC_000001.10:g.10405971C>T , CM000663.1:g.10405971C>T GRCh37
NC_000001.9:g.10328558C>T NCBI36
NG_008069.1:g.140208C>T , LRG_252:g.140208C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696502.1:c.3820C>T ENSP00000512668.1:p.Leu1274=
ENST00000696503.1:c.3682C>T ENSP00000512669.1:p.Leu1228=
ENST00000696504.1:c.3682C>T ENSP00000512670.1:p.Leu1228=
ENST00000676179.1:c.3757C>T MANE Select ENSP00000502065.1:p.Leu1253=
ENST00000263934.10:c.3619C>T ENSP00000263934.6:p.Leu1207=
ENST00000377081.5:c.3757C>T ENSP00000366284.1:p.Leu1253=
ENST00000377086.5:c.3757C>T ENSP00000366290.1:p.Leu1253=
ENST00000465635.5:n.212C>T
ENST00000483340.1:n.293C>T
ENST00000620295.2:c.3715C>T ENSP00000478500.1:p.Leu1239=
ENST00000622724.3:c.3679C>T ENSP00000480063.1:p.Leu1227=
NM_015074.3:c.3619C>T , LRG_252t1:c.3619C>T NP_055889.2:p.Leu1207=
NM_001365951.1:c.3757C>T NP_001352880.1:p.Leu1253=
NM_001365952.1:c.3757C>T NP_001352881.1:p.Leu1253=
NM_001365951.3:c.3757C>T MANE Select NP_001352880.1:p.Leu1253=