Canonical Allele Identifier: CA580622

Gene: KIF1B

Linked Data

• ClinVar Variation Id: 291465
• ClinVar RCV Id: RCV000347279 ; RCV000383160 ; RCV001173603 ; RCV004021327 ; RCV003480578
• dbSNP Id: rs143654307
• ExAC: 1:10316344 C / A
• gnomAD v2: 1-10316344-C-A
• gnomAD v3: 1-10256286-C-A
• gnomAD v4: 1-10256286-C-A
• MyVariant Identifiers: chr1:g.10316344C>A (hg19) ; chr1:g.10256286C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10256286C>A , CM000663.2:g.10256286C>A	GRCh38
NC_000001.10:g.10316344C>A , CM000663.1:g.10316344C>A	GRCh37
NC_000001.9:g.10238931C>A	NCBI36
NG_008069.1:g.50581C>A , LRG_252:g.50581C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696500.1:c.146C>A	ENSP00000512666.1:p.Ser49Tyr
ENST00000696501.1:c.146C>A	ENSP00000512667.1:p.Ser49Tyr
ENST00000696502.1:c.146C>A	ENSP00000512668.1:p.Ser49Tyr
ENST00000696503.1:c.146C>A	ENSP00000512669.1:p.Ser49Tyr
ENST00000696504.1:c.146C>A	ENSP00000512670.1:p.Ser49Tyr
ENST00000696505.1:c.*102C>A	ENSP00000512671.1:n.*102C>A
ENST00000696506.1:c.146C>A	ENSP00000512672.1:p.Ser49Tyr
ENST00000377093.9:c.146C>A	ENSP00000366297.4:p.Ser49Tyr
ENST00000676179.1:c.146C>A MANE Select	ENSP00000502065.1:p.Ser49Tyr
ENST00000263934.10:c.146C>A	ENSP00000263934.6:p.Ser49Tyr
ENST00000377081.5:c.146C>A	ENSP00000366284.1:p.Ser49Tyr
ENST00000377083.5:c.146C>A	ENSP00000366287.1:p.Ser49Tyr
ENST00000377086.5:c.146C>A	ENSP00000366290.1:p.Ser49Tyr
ENST00000377093.8:c.146C>A	ENSP00000366297.4:p.Ser49Tyr
ENST00000620295.2:c.146C>A	ENSP00000478500.1:p.Ser49Tyr
ENST00000622724.3:c.146C>A	ENSP00000480063.1:p.Ser49Tyr
NM_015074.3:c.146C>A , LRG_252t1:c.146C>A	NP_055889.2:p.Ser49Tyr
NM_183416.3:c.146C>A	NP_904325.2:p.Ser49Tyr
NM_001365951.1:c.146C>A	NP_001352880.1:p.Ser49Tyr
NM_001365952.1:c.146C>A	NP_001352881.1:p.Ser49Tyr
NM_001365953.1:c.146C>A	NP_001352882.1:p.Ser49Tyr
NM_001365951.3:c.146C>A MANE Select	NP_001352880.1:p.Ser49Tyr
NM_183416.4:c.146C>A	NP_904325.2:p.Ser49Tyr