Canonical Allele Identifier: CA336237
Gene: KIF1B HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10296659C>T , CM000663.2:g.10296659C>T GRCh38
NC_000001.10:g.10356717C>T , CM000663.1:g.10356717C>T GRCh37
NC_000001.9:g.10279304C>T NCBI36
NG_008069.1:g.90954C>T , LRG_252:g.90954C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000696500.1:c.*889C>T ENSP00000512666.1:n.*889C>T
ENST00000696502.1:c.1717C>T ENSP00000512668.1:p.Arg573Cys
ENST00000696503.1:c.1780C>T ENSP00000512669.1:p.Arg594Cys
ENST00000696504.1:c.1780C>T ENSP00000512670.1:p.Arg594Cys
ENST00000377093.9:c.1717C>T ENSP00000366297.4:p.Arg573Cys
ENST00000676179.1:c.1855C>T MANE Select ENSP00000502065.1:p.Arg619Cys
ENST00000263934.10:c.1717C>T ENSP00000263934.6:p.Arg573Cys
ENST00000377081.5:c.1855C>T ENSP00000366284.1:p.Arg619Cys
ENST00000377083.5:c.1717C>T ENSP00000366287.1:p.Arg573Cys
ENST00000377086.5:c.1855C>T ENSP00000366290.1:p.Arg619Cys
ENST00000377093.8:c.1717C>T ENSP00000366297.4:p.Arg573Cys
ENST00000620295.2:c.1813C>T ENSP00000478500.1:p.Arg605Cys
ENST00000622724.3:c.1777C>T ENSP00000480063.1:p.Arg593Cys
NM_015074.3:c.1717C>T , LRG_252t1:c.1717C>T NP_055889.2:p.Arg573Cys
NM_183416.3:c.1717C>T NP_904325.2:p.Arg573Cys
NM_001365951.1:c.1855C>T NP_001352880.1:p.Arg619Cys
NM_001365952.1:c.1855C>T NP_001352881.1:p.Arg619Cys
NM_001365953.1:c.1717C>T NP_001352882.1:p.Arg573Cys
NM_001365951.3:c.1855C>T MANE Select NP_001352880.1:p.Arg619Cys
NM_183416.4:c.1717C>T NP_904325.2:p.Arg573Cys