Canonical Allele Identifier: CA338335482

Gene: KIF1B

Linked Data

• ClinVar Variation Id: 1791106
• ClinVar RCV Id: RCV004063761
• dbSNP Id: rs1557714854
• gnomAD v3: 1-10324785-G-A
• gnomAD v4: 1-10324785-G-A
• MyVariant Identifiers: chr1:g.10384843G>A (hg19) ; chr1:g.10324785G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10324785G>A , CM000663.2:g.10324785G>A	GRCh38
NC_000001.10:g.10384843G>A , CM000663.1:g.10384843G>A	GRCh37
NC_000001.9:g.10307430G>A	NCBI36
NG_008069.1:g.119080G>A , LRG_252:g.119080G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696502.1:c.2427G>A	ENSP00000512668.1:p.Met809Ile
ENST00000696503.1:c.2490G>A	ENSP00000512669.1:p.Met830Ile
ENST00000696504.1:c.2490G>A	ENSP00000512670.1:p.Met830Ile
ENST00000676179.1:c.2565G>A MANE Select	ENSP00000502065.1:p.Met855Ile
ENST00000263934.10:c.2427G>A	ENSP00000263934.6:p.Met809Ile
ENST00000377081.5:c.2565G>A	ENSP00000366284.1:p.Met855Ile
ENST00000377086.5:c.2565G>A	ENSP00000366290.1:p.Met855Ile
ENST00000620295.2:c.2523G>A	ENSP00000478500.1:p.Met841Ile
ENST00000622724.3:c.2487G>A	ENSP00000480063.1:p.Met829Ile
NM_015074.3:c.2427G>A , LRG_252t1:c.2427G>A	NP_055889.2:p.Met809Ile
NM_001365951.1:c.2565G>A	NP_001352880.1:p.Met855Ile
NM_001365952.1:c.2565G>A	NP_001352881.1:p.Met855Ile
NM_001365951.3:c.2565G>A MANE Select	NP_001352880.1:p.Met855Ile