Canonical Allele Identifier: CA581833

Gene: KIF1B

Linked Data

• ClinVar Variation Id: 291571
• ClinVar RCV Id: RCV000273375 ; RCV000369195 ; RCV001174221 ; RCV002450834 ; RCV003422206
• dbSNP Id: rs140229905
• ExAC: 1:10403293 G / A
• gnomAD v2: 1-10403293-G-A
• gnomAD v3: 1-10343235-G-A
• gnomAD v4: 1-10343235-G-A
• MyVariant Identifiers: chr1:g.10403293G>A (hg19) ; chr1:g.10343235G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10343235G>A , CM000663.2:g.10343235G>A	GRCh38
NC_000001.10:g.10403293G>A , CM000663.1:g.10403293G>A	GRCh37
NC_000001.9:g.10325880G>A	NCBI36
NG_008069.1:g.137530G>A , LRG_252:g.137530G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696502.1:c.3498G>A	ENSP00000512668.1:p.Pro1166=
ENST00000696503.1:c.3561G>A	ENSP00000512669.1:p.Pro1187=
ENST00000696504.1:c.3561G>A	ENSP00000512670.1:p.Pro1187=
ENST00000676179.1:c.3636G>A MANE Select	ENSP00000502065.1:p.Pro1212=
ENST00000263934.10:c.3498G>A	ENSP00000263934.6:p.Pro1166=
ENST00000377081.5:c.3636G>A	ENSP00000366284.1:p.Pro1212=
ENST00000377086.5:c.3636G>A	ENSP00000366290.1:p.Pro1212=
ENST00000620295.2:c.3594G>A	ENSP00000478500.1:p.Pro1198=
ENST00000622724.3:c.3558G>A	ENSP00000480063.1:p.Pro1186=
NM_015074.3:c.3498G>A , LRG_252t1:c.3498G>A	NP_055889.2:p.Pro1166=
NM_001365951.1:c.3636G>A	NP_001352880.1:p.Pro1212=
NM_001365952.1:c.3636G>A	NP_001352881.1:p.Pro1212=
NM_001365951.3:c.3636G>A MANE Select	NP_001352880.1:p.Pro1212=