Canonical Allele Identifier: CA385516675

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 2825936
• ClinVar RCV Id: RCV003751952
• MyVariant Identifiers: chr12:g.57975699C>A (hg19) ; chr12:g.57581916C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581916C>A , CM000674.2:g.57581916C>A	GRCh38
NC_000012.11:g.57975699C>A , CM000674.1:g.57975699C>A	GRCh37
NC_000012.10:g.56261966C>A	NCBI36
NG_008155.1:g.36853C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2956C>A MANE Select	ENSP00000408979.2:p.Pro986Thr
ENST00000674619.1:c.2977C>A	ENSP00000502270.1:p.Pro993Thr
ENST00000675697.1:c.47C>A
ENST00000675737.1:n.360C>A
ENST00000675882.1:n.2479C>A
ENST00000675929.1:n.1514C>A
ENST00000676055.1:c.47C>A
ENST00000676457.1:c.2851C>A	ENSP00000501588.1:p.Pro951Thr
ENST00000286452.5:c.2689C>A	ENSP00000286452.5:p.Pro897Thr
ENST00000455537.6:c.2956C>A	ENSP00000408979.2:p.Pro986Thr
ENST00000552227.1:n.239C>A
NM_004984.2:c.2956C>A	NP_004975.2:p.Pro986Thr
NM_001354705.1:c.2689C>A	NP_001341634.1:p.Pro897Thr
NM_004984.3:c.2956C>A	NP_004975.2:p.Pro986Thr
XR_002957324.1:n.3189C>A
NM_004984.4:c.2956C>A MANE Select	NP_004975.2:p.Pro986Thr
NM_001354705.2:c.2689C>A	NP_001341634.1:p.Pro897Thr