Canonical Allele Identifier: CA581993
Community Standard Title: NM_001365951.3(KIF1B):c.4140G>T (p.Lys1380Asn)
Gene: KIF1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10361013G>T , CM000663.2:g.10361013G>T GRCh38
NC_000001.10:g.10421071G>T , CM000663.1:g.10421071G>T GRCh37
NC_000001.9:g.10343658G>T NCBI36
NG_008069.1:g.155308G>T , LRG_252:g.155308G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001365951.3:c.4140G>T MANE Select NP_001352880.1:p.Lys1380Asn
ENST00000676179.1:c.4140G>T MANE Select ENSP00000502065.1:p.Lys1380Asn
NM_001365951.1:c.4140G>T NP_001352880.1:p.Lys1380Asn
NM_001365952.1:c.4140G>T NP_001352881.1:p.Lys1380Asn
NM_015074.3:c.4002G>T , LRG_252t1:c.4002G>T NP_055889.2:p.Lys1334Asn
ENST00000263934.10:c.4002G>T ENSP00000263934.6:p.Lys1334Asn
ENST00000377081.5:c.4140G>T ENSP00000366284.1:p.Lys1380Asn
ENST00000377086.5:c.4140G>T ENSP00000366290.1:p.Lys1380Asn
ENST00000465635.5:n.595G>T
ENST00000483340.1:n.676G>T
ENST00000620295.2:c.4098G>T ENSP00000478500.1:p.Lys1366Asn
ENST00000622724.3:c.4062G>T ENSP00000480063.1:p.Lys1354Asn
ENST00000635499.1:c.185G>T
ENST00000696502.1:c.4203G>T ENSP00000512668.1:p.Lys1401Asn
ENST00000696503.1:c.4065G>T ENSP00000512669.1:p.Lys1355Asn
ENST00000696504.1:c.4065G>T ENSP00000512670.1:p.Lys1355Asn
XR_946953.1:n.401+408C>A
XR_946953.2:n.276+408C>A