Canonical Allele Identifier: CA998520147
Gene: KIF1B HGNC NCBI

Linked Data

dbSNP Id: rs1536262
gnomAD v3: 1-10378629-C-A
gnomAD v4: 1-10378629-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10378629C>A , CM000663.2:g.10378629C>A GRCh38
NC_000001.10:g.10438687C>A , CM000663.1:g.10438687C>A GRCh37
NC_000001.9:g.10361274C>A NCBI36
NG_008069.1:g.172924C>A , LRG_252:g.172924C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000676179.1:c.*2042C>A MANE Select ENSP00000502065.1:n.*2042C>A
ENST00000377081.5:c.*227C>A ENSP00000366284.1:n.*227C>A
ENST00000377086.5:c.*2042C>A ENSP00000366290.1:n.*2042C>A
ENST00000620295.2:c.5657C>A ENSP00000478500.1:n.5657C>A
ENST00000622724.3:c.5621C>A ENSP00000480063.1:n.5621C>A
NM_015074.3:c.*2042C>A , LRG_252t1:c.*2042C>A NP_055889.2:n.*2042C>A
NM_001365951.1:c.*2042C>A NP_001352880.1:n.*2042C>A
NM_001365952.1:c.*2042C>A NP_001352881.1:n.*2042C>A
NM_001365951.3:c.*2042C>A MANE Select NP_001352880.1:n.*2042C>A
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