Canonical Allele Identifier: CA17847645
Community Standard Title: NM_001365951.3(KIF1B):c.4171C>T (p.Leu1391=)
Gene: KIF1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10361692C>T , CM000663.2:g.10361692C>T GRCh38
NC_000001.10:g.10421750C>T , CM000663.1:g.10421750C>T GRCh37
NC_000001.9:g.10344337C>T NCBI36
NG_008069.1:g.155987C>T , LRG_252:g.155987C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001365951.3:c.4171C>T MANE Select NP_001352880.1:p.Leu1391=
ENST00000676179.1:c.4171C>T MANE Select ENSP00000502065.1:p.Leu1391=
NM_001365951.1:c.4171C>T NP_001352880.1:p.Leu1391=
NM_001365952.1:c.4171C>T NP_001352881.1:p.Leu1391=
NM_015074.3:c.4033C>T , LRG_252t1:c.4033C>T NP_055889.2:p.Leu1345=
ENST00000263934.10:c.4033C>T ENSP00000263934.6:p.Leu1345=
ENST00000377081.5:c.4171C>T ENSP00000366284.1:p.Leu1391=
ENST00000377086.5:c.4171C>T ENSP00000366290.1:p.Leu1391=
ENST00000465635.5:n.626C>T
ENST00000483340.1:n.707C>T
ENST00000620295.2:c.4129C>T ENSP00000478500.1:p.Leu1377=
ENST00000622724.3:c.4093C>T ENSP00000480063.1:p.Leu1365=
ENST00000635499.1:c.216C>T
ENST00000696502.1:c.4234C>T ENSP00000512668.1:p.Leu1412=
ENST00000696503.1:c.4096C>T ENSP00000512669.1:p.Leu1366=
ENST00000696504.1:c.4096C>T ENSP00000512670.1:p.Leu1366=
XR_946953.1:n.356-226G>A
XR_946953.2:n.231-226G>A