Canonical Allele Identifier: CA202589

Gene: KIF1B

Linked Data

• ClinVar Variation Id: 196788
• ClinVar RCV Id: RCV000177655 ; RCV000198749 ; RCV000373531
• dbSNP Id: rs147318592
• ExAC: 1:10403302 G / A
• gnomAD v2: 1-10403302-G-A
• gnomAD v3: 1-10343244-G-A
• gnomAD v4: 1-10343244-G-A
• COSMIC: COSM1600456
• MyVariant Identifiers: chr1:g.10403302G>A (hg19) ; chr1:g.10343244G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10343244G>A , CM000663.2:g.10343244G>A	GRCh38
NC_000001.10:g.10403302G>A , CM000663.1:g.10403302G>A	GRCh37
NC_000001.9:g.10325889G>A	NCBI36
NG_008069.1:g.137539G>A , LRG_252:g.137539G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696502.1:c.3507G>A	ENSP00000512668.1:p.Pro1169=
ENST00000696503.1:c.3570G>A	ENSP00000512669.1:p.Pro1190=
ENST00000696504.1:c.3570G>A	ENSP00000512670.1:p.Pro1190=
ENST00000676179.1:c.3645G>A MANE Select	ENSP00000502065.1:p.Pro1215=
ENST00000263934.10:c.3507G>A	ENSP00000263934.6:p.Pro1169=
ENST00000377081.5:c.3645G>A	ENSP00000366284.1:p.Pro1215=
ENST00000377086.5:c.3645G>A	ENSP00000366290.1:p.Pro1215=
ENST00000620295.2:c.3603G>A	ENSP00000478500.1:p.Pro1201=
ENST00000622724.3:c.3567G>A	ENSP00000480063.1:p.Pro1189=
NM_015074.3:c.3507G>A , LRG_252t1:c.3507G>A	NP_055889.2:p.Pro1169=
NM_001365951.1:c.3645G>A	NP_001352880.1:p.Pro1215=
NM_001365952.1:c.3645G>A	NP_001352881.1:p.Pro1215=
NM_001365951.3:c.3645G>A MANE Select	NP_001352880.1:p.Pro1215=