Canonical Allele Identifier: CA338332331

Gene: KIF1B

Linked Data

• ClinVar Variation Id: 1784565
• ClinVar RCV Id: RCV002419594 ; RCV003101015
• MyVariant Identifiers: chr1:g.10380144C>G (hg19) ; chr1:g.10320086C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.10320086C>G , CM000663.2:g.10320086C>G	GRCh38
NC_000001.10:g.10380144C>G , CM000663.1:g.10380144C>G	GRCh37
NC_000001.9:g.10302731C>G	NCBI36
NG_008069.1:g.114381C>G , LRG_252:g.114381C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000696502.1:c.2021C>G	ENSP00000512668.1:p.Thr674Ser
ENST00000696503.1:c.2084C>G	ENSP00000512669.1:p.Thr695Ser
ENST00000696504.1:c.2084C>G	ENSP00000512670.1:p.Thr695Ser
ENST00000676179.1:c.2159C>G MANE Select	ENSP00000502065.1:p.Thr720Ser
ENST00000263934.10:c.2021C>G	ENSP00000263934.6:p.Thr674Ser
ENST00000377081.5:c.2159C>G	ENSP00000366284.1:p.Thr720Ser
ENST00000377086.5:c.2159C>G	ENSP00000366290.1:p.Thr720Ser
ENST00000620295.2:c.2117C>G	ENSP00000478500.1:p.Thr706Ser
ENST00000622724.3:c.2081C>G	ENSP00000480063.1:p.Thr694Ser
NM_015074.3:c.2021C>G , LRG_252t1:c.2021C>G	NP_055889.2:p.Thr674Ser
NM_001365951.1:c.2159C>G	NP_001352880.1:p.Thr720Ser
NM_001365952.1:c.2159C>G	NP_001352881.1:p.Thr720Ser
NM_001365951.3:c.2159C>G MANE Select	NP_001352880.1:p.Thr720Ser