Canonical Allele Identifier: CA385516687

Gene: KIF5A

Linked Data

• MyVariant Identifiers: chr12:g.57975702T>G (hg19) ; chr12:g.57581919T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581919T>G , CM000674.2:g.57581919T>G	GRCh38
NC_000012.11:g.57975702T>G , CM000674.1:g.57975702T>G	GRCh37
NC_000012.10:g.56261969T>G	NCBI36
NG_008155.1:g.36856T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2959T>G MANE Select	ENSP00000408979.2:p.Leu987Val
ENST00000674619.1:c.2980T>G	ENSP00000502270.1:p.Leu994Val
ENST00000675697.1:c.50T>G
ENST00000675737.1:n.363T>G
ENST00000675882.1:n.2482T>G
ENST00000675929.1:n.1517T>G
ENST00000676055.1:c.50T>G
ENST00000676457.1:c.2854T>G	ENSP00000501588.1:p.Leu952Val
ENST00000286452.5:c.2692T>G	ENSP00000286452.5:p.Leu898Val
ENST00000455537.6:c.2959T>G	ENSP00000408979.2:p.Leu987Val
ENST00000552227.1:n.242T>G
NM_004984.2:c.2959T>G	NP_004975.2:p.Leu987Val
NM_001354705.1:c.2692T>G	NP_001341634.1:p.Leu898Val
NM_004984.3:c.2959T>G	NP_004975.2:p.Leu987Val
XR_002957324.1:n.3192T>G
NM_004984.4:c.2959T>G MANE Select	NP_004975.2:p.Leu987Val
NM_001354705.2:c.2692T>G	NP_001341634.1:p.Leu898Val