Canonical Allele Identifier: CA385516718

Gene: KIF5A

Linked Data

• COSMIC: COSM325636
• MyVariant Identifiers: chr12:g.57975709C>G (hg19) ; chr12:g.57581926C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581926C>G , CM000674.2:g.57581926C>G	GRCh38
NC_000012.11:g.57975709C>G , CM000674.1:g.57975709C>G	GRCh37
NC_000012.10:g.56261976C>G	NCBI36
NG_008155.1:g.36863C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2966C>G MANE Select	ENSP00000408979.2:p.Ser989Cys
ENST00000674619.1:c.2987C>G	ENSP00000502270.1:p.Ser996Cys
ENST00000675697.1:c.57C>G
ENST00000675737.1:n.370C>G
ENST00000675882.1:n.2489C>G
ENST00000675929.1:n.1524C>G
ENST00000676055.1:c.57C>G
ENST00000676457.1:c.2861C>G	ENSP00000501588.1:p.Ser954Cys
ENST00000286452.5:c.2699C>G	ENSP00000286452.5:p.Ser900Cys
ENST00000455537.6:c.2966C>G	ENSP00000408979.2:p.Ser989Cys
ENST00000552227.1:n.249C>G
NM_004984.2:c.2966C>G	NP_004975.2:p.Ser989Cys
NM_001354705.1:c.2699C>G	NP_001341634.1:p.Ser900Cys
NM_004984.3:c.2966C>G	NP_004975.2:p.Ser989Cys
XR_002957324.1:n.3199C>G
NM_004984.4:c.2966C>G MANE Select	NP_004975.2:p.Ser989Cys
NM_001354705.2:c.2699C>G	NP_001341634.1:p.Ser900Cys