Canonical Allele Identifier: CA2567722048
Gene: KIF1B HGNC NCBI

Linked Data

gnomAD v4: 1-10378840-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10378840A>C , CM000663.2:g.10378840A>C GRCh38
NC_000001.10:g.10438898A>C , CM000663.1:g.10438898A>C GRCh37
NC_000001.9:g.10361485A>C NCBI36
NG_008069.1:g.173135A>C , LRG_252:g.173135A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000676179.1:c.*2253A>C MANE Select ENSP00000502065.1:n.*2253A>C
ENST00000377081.5:c.*438A>C ENSP00000366284.1:n.*438A>C
ENST00000377086.5:c.*2253A>C ENSP00000366290.1:n.*2253A>C
ENST00000620295.2:c.5868A>C ENSP00000478500.1:n.5868A>C
ENST00000622724.3:c.5832A>C ENSP00000480063.1:n.5832A>C
NM_015074.3:c.*2253A>C , LRG_252t1:c.*2253A>C NP_055889.2:n.*2253A>C
NM_001365951.1:c.*2253A>C NP_001352880.1:n.*2253A>C
NM_001365952.1:c.*2253A>C NP_001352881.1:n.*2253A>C
NM_001365951.3:c.*2253A>C MANE Select NP_001352880.1:n.*2253A>C