Canonical Allele Identifier: CA385516532

Gene: KIF5A

Linked Data

• MyVariant Identifiers: chr12:g.57975654T>C (hg19) ; chr12:g.57581871T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57581871T>C , CM000674.2:g.57581871T>C	GRCh38
NC_000012.11:g.57975654T>C , CM000674.1:g.57975654T>C	GRCh37
NC_000012.10:g.56261921T>C	NCBI36
NG_008155.1:g.36808T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.2911T>C MANE Select	ENSP00000408979.2:p.Phe971Leu
ENST00000674619.1:c.2932T>C	ENSP00000502270.1:p.Phe978Leu
ENST00000675697.1:c.2T>C
ENST00000675737.1:n.315T>C
ENST00000675882.1:n.2434T>C
ENST00000675929.1:n.1469T>C
ENST00000676055.1:c.2T>C
ENST00000676457.1:c.2806T>C	ENSP00000501588.1:p.Phe936Leu
ENST00000286452.5:c.2644T>C	ENSP00000286452.5:p.Phe882Leu
ENST00000455537.6:c.2911T>C	ENSP00000408979.2:p.Phe971Leu
ENST00000552227.1:n.194T>C
NM_004984.2:c.2911T>C	NP_004975.2:p.Phe971Leu
NM_001354705.1:c.2644T>C	NP_001341634.1:p.Phe882Leu
NM_004984.3:c.2911T>C	NP_004975.2:p.Phe971Leu
XR_002957324.1:n.3144T>C
NM_004984.4:c.2911T>C MANE Select	NP_004975.2:p.Phe971Leu
NM_001354705.2:c.2644T>C	NP_001341634.1:p.Phe882Leu