Canonical Allele Identifier: CA582295
Community Standard Title: NM_001365951.3(KIF1B):c.5236A>C (p.Asn1746His)
Gene: KIF1B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10374993A>C , CM000663.2:g.10374993A>C GRCh38
NC_000001.10:g.10435051A>C , CM000663.1:g.10435051A>C GRCh37
NC_000001.9:g.10357638A>C NCBI36
NG_008069.1:g.169288A>C , LRG_252:g.169288A>C

Transcript Alleles

HGVS Amino-acid Change
NM_001365951.3:c.5236A>C MANE Select NP_001352880.1:p.Asn1746His
ENST00000676179.1:c.5236A>C MANE Select ENSP00000502065.1:p.Asn1746His
NM_001365951.1:c.5236A>C NP_001352880.1:p.Asn1746His
NM_001365952.1:c.5236A>C NP_001352881.1:p.Asn1746His
NM_015074.3:c.5098A>C , LRG_252t1:c.5098A>C NP_055889.2:p.Asn1700His
ENST00000263934.10:c.5098A>C ENSP00000263934.6:p.Asn1700His
ENST00000377081.5:c.5236A>C ENSP00000366284.1:p.Asn1746His
ENST00000377086.5:c.5236A>C ENSP00000366290.1:p.Asn1746His
ENST00000620295.2:c.5194A>C ENSP00000478500.1:p.Asn1732His
ENST00000622724.3:c.5158A>C ENSP00000480063.1:p.Asn1720His
ENST00000635499.1:c.1281A>C
ENST00000696502.1:c.5299A>C ENSP00000512668.1:p.Asn1767His
ENST00000696503.1:c.5161A>C ENSP00000512669.1:p.Asn1721His
ENST00000696504.1:c.5161A>C ENSP00000512670.1:p.Asn1721His