Canonical Allele Identifier: CA998520100
Gene: KIF1B HGNC NCBI

Linked Data

dbSNP Id: rs1638946509
gnomAD v3: 1-10378563-G-C
gnomAD v4: 1-10378563-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.10378563G>C , CM000663.2:g.10378563G>C GRCh38
NC_000001.10:g.10438621G>C , CM000663.1:g.10438621G>C GRCh37
NC_000001.9:g.10361208G>C NCBI36
NG_008069.1:g.172858G>C , LRG_252:g.172858G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000676179.1:c.*1976G>C MANE Select ENSP00000502065.1:n.*1976G>C
ENST00000377081.5:c.*161G>C ENSP00000366284.1:n.*161G>C
ENST00000377086.5:c.*1976G>C ENSP00000366290.1:n.*1976G>C
ENST00000620295.2:c.5591G>C ENSP00000478500.1:n.5591G>C
ENST00000622724.3:c.5555G>C ENSP00000480063.1:n.5555G>C
NM_015074.3:c.*1976G>C , LRG_252t1:c.*1976G>C NP_055889.2:n.*1976G>C
NM_001365951.1:c.*1976G>C NP_001352880.1:n.*1976G>C
NM_001365952.1:c.*1976G>C NP_001352881.1:n.*1976G>C
NM_001365951.3:c.*1976G>C MANE Select NP_001352880.1:n.*1976G>C
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