Canonical Allele Identifier: CA580949

Gene: KIF1B

Linked Data

• ClinVar Variation Id: 291522
• ClinVar RCV Id: RCV000297417 ; RCV000473989 ; RCV001173387 ; RCV001712005 ; RCV002374489
• dbSNP Id: rs17034660
• ExAC: 1:10342522 G / A
• gnomAD v2: 1-10342522-G-A
• gnomAD v3: 1-10282464-G-A
• gnomAD v4: 1-10282464-G-A
• MyVariant Identifiers: chr1:g.10342522G>A (hg19) ; chr1:g.10282464G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10282464G>A , CM000663.2:g.10282464G>A	GRCh38
NC_000001.10:g.10342522G>A , CM000663.1:g.10342522G>A	GRCh37
NC_000001.9:g.10265109G>A	NCBI36
NG_008069.1:g.76759G>A , LRG_252:g.76759G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696500.1:c.*399G>A	ENSP00000512666.1:n.*399G>A
ENST00000696502.1:c.1227G>A	ENSP00000512668.1:p.Thr409=
ENST00000696503.1:c.1227G>A	ENSP00000512669.1:p.Thr409=
ENST00000696504.1:c.1227G>A	ENSP00000512670.1:p.Thr409=
ENST00000696507.1:c.65G>A
ENST00000377093.9:c.1227G>A	ENSP00000366297.4:p.Thr409=
ENST00000676179.1:c.1365G>A MANE Select	ENSP00000502065.1:p.Thr455=
ENST00000263934.10:c.1227G>A	ENSP00000263934.6:p.Thr409=
ENST00000377081.5:c.1365G>A	ENSP00000366284.1:p.Thr455=
ENST00000377083.5:c.1227G>A	ENSP00000366287.1:p.Thr409=
ENST00000377086.5:c.1365G>A	ENSP00000366290.1:p.Thr455=
ENST00000377093.8:c.1227G>A	ENSP00000366297.4:p.Thr409=
ENST00000497835.1:n.15G>A
ENST00000620295.2:c.1323G>A	ENSP00000478500.1:p.Thr441=
ENST00000622724.3:c.1287G>A	ENSP00000480063.1:p.Thr429=
NM_015074.3:c.1227G>A , LRG_252t1:c.1227G>A	NP_055889.2:p.Thr409=
NM_183416.3:c.1227G>A	NP_904325.2:p.Thr409=
NM_001365951.1:c.1365G>A	NP_001352880.1:p.Thr455=
NM_001365952.1:c.1365G>A	NP_001352881.1:p.Thr455=
NM_001365953.1:c.1227G>A	NP_001352882.1:p.Thr409=
NM_001365951.3:c.1365G>A MANE Select	NP_001352880.1:p.Thr455=
NM_183416.4:c.1227G>A	NP_904325.2:p.Thr409=