Canonical Allele Identifier: CA521139375

Gene: KIF1B

Linked Data

• dbSNP Id: rs528957777
• gnomAD v2: 1-10438929-C-T
• gnomAD v3: 1-10378871-C-T
• gnomAD v4: 1-10378871-C-T
• MyVariant Identifiers: chr1:g.10438929C>T (hg19) ; chr1:g.10378871C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10378871C>T , CM000663.2:g.10378871C>T	GRCh38
NC_000001.10:g.10438929C>T , CM000663.1:g.10438929C>T	GRCh37
NC_000001.9:g.10361516C>T	NCBI36
NG_008069.1:g.173166C>T , LRG_252:g.173166C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000676179.1:c.*2284C>T MANE Select	ENSP00000502065.1:n.*2284C>T
ENST00000377081.5:c.*469C>T	ENSP00000366284.1:n.*469C>T
ENST00000377086.5:c.*2284C>T	ENSP00000366290.1:n.*2284C>T
ENST00000620295.2:c.5899C>T	ENSP00000478500.1:n.5899C>T
ENST00000622724.3:c.5863C>T	ENSP00000480063.1:n.5863C>T
NM_015074.3:c.*2284C>T , LRG_252t1:c.*2284C>T	NP_055889.2:n.*2284C>T
NM_001365951.1:c.*2284C>T	NP_001352880.1:n.*2284C>T
NM_001365952.1:c.*2284C>T	NP_001352881.1:n.*2284C>T
NM_001365951.3:c.*2284C>T MANE Select	NP_001352880.1:n.*2284C>T