Canonical Allele Identifier: CA521139356

Gene: KIF1B

Linked Data

• dbSNP Id: rs1281278427
• gnomAD v2: 1-10438448-C-T
• gnomAD v4: 1-10378390-C-T
• MyVariant Identifiers: chr1:g.10438448C>T (hg19) ; chr1:g.10378390C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10378390C>T , CM000663.2:g.10378390C>T	GRCh38
NC_000001.10:g.10438448C>T , CM000663.1:g.10438448C>T	GRCh37
NC_000001.9:g.10361035C>T	NCBI36
NG_008069.1:g.172685C>T , LRG_252:g.172685C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000676179.1:c.*1803C>T MANE Select	ENSP00000502065.1:n.*1803C>T
ENST00000377081.5:c.5460C>T	ENSP00000366284.1:p.Phe1820=
ENST00000377086.5:c.*1803C>T	ENSP00000366290.1:n.*1803C>T
ENST00000620295.2:c.5418C>T	ENSP00000478500.1:p.Phe1806=
ENST00000622724.3:c.5382C>T	ENSP00000480063.1:p.Phe1794=
NM_015074.3:c.*1803C>T , LRG_252t1:c.*1803C>T	NP_055889.2:n.*1803C>T
NM_001365951.1:c.*1803C>T	NP_001352880.1:n.*1803C>T
NM_001365952.1:c.*1803C>T	NP_001352881.1:n.*1803C>T
NM_001365951.3:c.*1803C>T MANE Select	NP_001352880.1:n.*1803C>T