Canonical Allele Identifier: CA10607200

Gene: KIF1B

Linked Data

• ClinVar Variation Id: 291521
• ClinVar RCV Id: RCV000312133 ; RCV004021334
• dbSNP Id: rs886044977
• MyVariant Identifiers: chr1:g.10342517T>C (hg19) ; chr1:g.10282459T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10282459T>C , CM000663.2:g.10282459T>C	GRCh38
NC_000001.10:g.10342517T>C , CM000663.1:g.10342517T>C	GRCh37
NC_000001.9:g.10265104T>C	NCBI36
NG_008069.1:g.76754T>C , LRG_252:g.76754T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696500.1:c.*394T>C	ENSP00000512666.1:n.*394T>C
ENST00000696502.1:c.1222T>C	ENSP00000512668.1:p.Leu408=
ENST00000696503.1:c.1222T>C	ENSP00000512669.1:p.Leu408=
ENST00000696504.1:c.1222T>C	ENSP00000512670.1:p.Leu408=
ENST00000696507.1:c.60T>C
ENST00000377093.9:c.1222T>C	ENSP00000366297.4:p.Leu408=
ENST00000676179.1:c.1360T>C MANE Select	ENSP00000502065.1:p.Leu454=
ENST00000263934.10:c.1222T>C	ENSP00000263934.6:p.Leu408=
ENST00000377081.5:c.1360T>C	ENSP00000366284.1:p.Leu454=
ENST00000377083.5:c.1222T>C	ENSP00000366287.1:p.Leu408=
ENST00000377086.5:c.1360T>C	ENSP00000366290.1:p.Leu454=
ENST00000377093.8:c.1222T>C	ENSP00000366297.4:p.Leu408=
ENST00000497835.1:n.10T>C
ENST00000620295.2:c.1318T>C	ENSP00000478500.1:p.Leu440=
ENST00000622724.3:c.1282T>C	ENSP00000480063.1:p.Leu428=
NM_015074.3:c.1222T>C , LRG_252t1:c.1222T>C	NP_055889.2:p.Leu408=
NM_183416.3:c.1222T>C	NP_904325.2:p.Leu408=
NM_001365951.1:c.1360T>C	NP_001352880.1:p.Leu454=
NM_001365952.1:c.1360T>C	NP_001352881.1:p.Leu454=
NM_001365953.1:c.1222T>C	NP_001352882.1:p.Leu408=
NM_001365951.3:c.1360T>C MANE Select	NP_001352880.1:p.Leu454=
NM_183416.4:c.1222T>C	NP_904325.2:p.Leu408=