Canonical Allele Identifier: CA338705

Gene: KIF1B

Linked Data

• ClinVar Variation Id: 215880
• ClinVar RCV Id: RCV000199541 ; RCV000293085 ; RCV003422104 ; RCV004020453 ; RCV003947656
• dbSNP Id: rs140015591
• ExAC: 1:10384871 A / C
• gnomAD v2: 1-10384871-A-C
• gnomAD v3: 1-10324813-A-C
• gnomAD v4: 1-10324813-A-C
• MyVariant Identifiers: chr1:g.10384871A>C (hg19) ; chr1:g.10324813A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10324813A>C , CM000663.2:g.10324813A>C	GRCh38
NC_000001.10:g.10384871A>C , CM000663.1:g.10384871A>C	GRCh37
NC_000001.9:g.10307458A>C	NCBI36
NG_008069.1:g.119108A>C , LRG_252:g.119108A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696502.1:c.2455A>C	ENSP00000512668.1:p.Ser819Arg
ENST00000696503.1:c.2518A>C	ENSP00000512669.1:p.Ser840Arg
ENST00000696504.1:c.2518A>C	ENSP00000512670.1:p.Ser840Arg
ENST00000676179.1:c.2593A>C MANE Select	ENSP00000502065.1:p.Ser865Arg
ENST00000263934.10:c.2455A>C	ENSP00000263934.6:p.Ser819Arg
ENST00000377081.5:c.2593A>C	ENSP00000366284.1:p.Ser865Arg
ENST00000377086.5:c.2593A>C	ENSP00000366290.1:p.Ser865Arg
ENST00000620295.2:c.2551A>C	ENSP00000478500.1:p.Ser851Arg
ENST00000622724.3:c.2515A>C	ENSP00000480063.1:p.Ser839Arg
NM_015074.3:c.2455A>C , LRG_252t1:c.2455A>C	NP_055889.2:p.Ser819Arg
NM_001365951.1:c.2593A>C	NP_001352880.1:p.Ser865Arg
NM_001365952.1:c.2593A>C	NP_001352881.1:p.Ser865Arg
NM_001365951.3:c.2593A>C MANE Select	NP_001352880.1:p.Ser865Arg