Canonical Allele Identifier: CA385516696

Gene: KIF5A

Linked Data

• MyVariant Identifiers: chr12:g.57975704G>T (hg19) ; chr12:g.57581921G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581921G>T , CM000674.2:g.57581921G>T	GRCh38
NC_000012.11:g.57975704G>T , CM000674.1:g.57975704G>T	GRCh37
NC_000012.10:g.56261971G>T	NCBI36
NG_008155.1:g.36858G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2961G>T MANE Select	ENSP00000408979.2:p.Leu987Phe
ENST00000674619.1:c.2982G>T	ENSP00000502270.1:p.Leu994Phe
ENST00000675697.1:c.52G>T
ENST00000675737.1:n.365G>T
ENST00000675882.1:n.2484G>T
ENST00000675929.1:n.1519G>T
ENST00000676055.1:c.52G>T
ENST00000676457.1:c.2856G>T	ENSP00000501588.1:p.Leu952Phe
ENST00000286452.5:c.2694G>T	ENSP00000286452.5:p.Leu898Phe
ENST00000455537.6:c.2961G>T	ENSP00000408979.2:p.Leu987Phe
ENST00000552227.1:n.244G>T
NM_004984.2:c.2961G>T	NP_004975.2:p.Leu987Phe
NM_001354705.1:c.2694G>T	NP_001341634.1:p.Leu898Phe
NM_004984.3:c.2961G>T	NP_004975.2:p.Leu987Phe
XR_002957324.1:n.3194G>T
NM_004984.4:c.2961G>T MANE Select	NP_004975.2:p.Leu987Phe
NM_001354705.2:c.2694G>T	NP_001341634.1:p.Leu898Phe