Canonical Allele Identifier: CA581677
Community Standard Title: NM_001365951.3(KIF1B):c.3042A>C (p.Ala1014=)
Gene: KIF1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10334637A>C , CM000663.2:g.10334637A>C GRCh38
NC_000001.10:g.10394695A>C , CM000663.1:g.10394695A>C GRCh37
NC_000001.9:g.10317282A>C NCBI36
NG_008069.1:g.128932A>C , LRG_252:g.128932A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001365951.3:c.3042A>C MANE Select NP_001352880.1:p.Ala1014=
ENST00000676179.1:c.3042A>C MANE Select ENSP00000502065.1:p.Ala1014=
NM_001365951.1:c.3042A>C NP_001352880.1:p.Ala1014=
NM_001365952.1:c.3042A>C NP_001352881.1:p.Ala1014=
NM_015074.3:c.2904A>C , LRG_252t1:c.2904A>C NP_055889.2:p.Ala968=
ENST00000263934.10:c.2904A>C ENSP00000263934.6:p.Ala968=
ENST00000377081.5:c.3042A>C ENSP00000366284.1:p.Ala1014=
ENST00000377086.5:c.3042A>C ENSP00000366290.1:p.Ala1014=
ENST00000620295.2:c.3000A>C ENSP00000478500.1:p.Ala1000=
ENST00000622724.3:c.2964A>C ENSP00000480063.1:p.Ala988=
ENST00000696502.1:c.2904A>C ENSP00000512668.1:p.Ala968=
ENST00000696503.1:c.2967A>C ENSP00000512669.1:p.Ala989=
ENST00000696504.1:c.2967A>C ENSP00000512670.1:p.Ala989=