Canonical Allele Identifier: CA480266251

Gene: KIF5A

Linked Data

• MyVariant Identifiers: chr12:g.57975702T>C (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000455537.7:c.2959T>C MANE Select	ENSP00000408979.2:p.Leu987=
ENST00000674619.1:c.2980T>C	ENSP00000502270.1:p.Leu994=
ENST00000675697.1:c.50T>C
ENST00000675737.1:n.363T>C
ENST00000675882.1:n.2482T>C
ENST00000675929.1:n.1517T>C
ENST00000676055.1:c.50T>C
ENST00000676457.1:c.2854T>C	ENSP00000501588.1:p.Leu952=
ENST00000286452.5:c.2692T>C	ENSP00000286452.5:p.Leu898=
ENST00000455537.6:c.2959T>C	ENSP00000408979.2:p.Leu987=
ENST00000552227.1:n.242T>C
NM_004984.2:c.2959T>C	NP_004975.2:p.Leu987=
NM_001354705.1:c.2692T>C	NP_001341634.1:p.Leu898=
NM_004984.3:c.2959T>C	NP_004975.2:p.Leu987=
XR_002957324.1:n.3192T>C
NM_004984.4:c.2959T>C MANE Select	NP_004975.2:p.Leu987=
NM_001354705.2:c.2692T>C	NP_001341634.1:p.Leu898=