Canonical Allele Identifier: CA582358
Community Standard Title: NM_001365951.3(KIF1B):c.5441C>T (p.Ser1814Leu)
Gene: KIF1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10376577C>T , CM000663.2:g.10376577C>T GRCh38
NC_000001.10:g.10436635C>T , CM000663.1:g.10436635C>T GRCh37
NC_000001.9:g.10359222C>T NCBI36
NG_008069.1:g.170872C>T , LRG_252:g.170872C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001365951.3:c.5441C>T MANE Select NP_001352880.1:p.Ser1814Leu
ENST00000676179.1:c.5441C>T MANE Select ENSP00000502065.1:p.Ser1814Leu
NM_001365951.1:c.5441C>T NP_001352880.1:p.Ser1814Leu
NM_001365952.1:c.5441C>T NP_001352881.1:p.Ser1814Leu
NM_015074.3:c.5303C>T , LRG_252t1:c.5303C>T NP_055889.2:p.Ser1768Leu
ENST00000263934.10:c.5303C>T ENSP00000263934.6:p.Ser1768Leu
ENST00000377081.5:c.5408+1204C>T ENSP00000366284.1:n.5408+1204C>T
ENST00000377086.5:c.5441C>T ENSP00000366290.1:p.Ser1814Leu
ENST00000620295.2:c.5366+1204C>T ENSP00000478500.1:n.5366+1204C>T
ENST00000622724.3:c.5330+1204C>T ENSP00000480063.1:n.5330+1204C>T
ENST00000635499.1:c.1486C>T
ENST00000696502.1:c.5504C>T ENSP00000512668.1:p.Ser1835Leu
ENST00000696503.1:c.5366C>T ENSP00000512669.1:p.Ser1789Leu
ENST00000696504.1:c.5366C>T ENSP00000512670.1:p.Ser1789Leu