Canonical Allele Identifier: CA581564

Gene: KIF1B

Linked Data

• ClinVar Variation Id: 1791551
• ClinVar RCV Id: RCV003101840 ; RCV004063884
• dbSNP Id: rs573774777
• ExAC: 1:10384872 G / A
• gnomAD v2: 1-10384872-G-A
• gnomAD v3: 1-10324814-G-A
• gnomAD v4: 1-10324814-G-A
• MyVariant Identifiers: chr1:g.10384872G>A (hg19) ; chr1:g.10324814G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10324814G>A , CM000663.2:g.10324814G>A	GRCh38
NC_000001.10:g.10384872G>A , CM000663.1:g.10384872G>A	GRCh37
NC_000001.9:g.10307459G>A	NCBI36
NG_008069.1:g.119109G>A , LRG_252:g.119109G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696502.1:c.2456G>A	ENSP00000512668.1:p.Ser819Asn
ENST00000696503.1:c.2519G>A	ENSP00000512669.1:p.Ser840Asn
ENST00000696504.1:c.2519G>A	ENSP00000512670.1:p.Ser840Asn
ENST00000676179.1:c.2594G>A MANE Select	ENSP00000502065.1:p.Ser865Asn
ENST00000263934.10:c.2456G>A	ENSP00000263934.6:p.Ser819Asn
ENST00000377081.5:c.2594G>A	ENSP00000366284.1:p.Ser865Asn
ENST00000377086.5:c.2594G>A	ENSP00000366290.1:p.Ser865Asn
ENST00000620295.2:c.2552G>A	ENSP00000478500.1:p.Ser851Asn
ENST00000622724.3:c.2516G>A	ENSP00000480063.1:p.Ser839Asn
NM_015074.3:c.2456G>A , LRG_252t1:c.2456G>A	NP_055889.2:p.Ser819Asn
NM_001365951.1:c.2594G>A	NP_001352880.1:p.Ser865Asn
NM_001365952.1:c.2594G>A	NP_001352881.1:p.Ser865Asn
NM_001365951.3:c.2594G>A MANE Select	NP_001352880.1:p.Ser865Asn