Canonical Allele Identifier: CA385500497

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 2768832
• ClinVar RCV Id: RCV003590988
• MyVariant Identifiers: chr12:g.57963058G>C (hg19) ; chr12:g.57569275G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57569275G>C , CM000674.2:g.57569275G>C	GRCh38
NC_000012.11:g.57963058G>C , CM000674.1:g.57963058G>C	GRCh37
NC_000012.10:g.56249325G>C	NCBI36
NG_008155.1:g.24212G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000455537.7:c.839G>C MANE Select	ENSP00000408979.2:p.Arg280Pro
ENST00000674619.1:c.839G>C	ENSP00000502270.1:p.Arg280Pro
ENST00000676457.1:c.734G>C	ENSP00000501588.1:p.Arg245Pro
ENST00000286452.5:c.572G>C	ENSP00000286452.5:p.Arg191Pro
ENST00000455537.6:c.839G>C	ENSP00000408979.2:p.Arg280Pro
NM_004984.2:c.839G>C	NP_004975.2:p.Arg280Pro
NM_001354705.1:c.572G>C	NP_001341634.1:p.Arg191Pro
NM_004984.3:c.839G>C	NP_004975.2:p.Arg280Pro
XR_002957324.1:n.1072G>C
NM_004984.4:c.839G>C MANE Select	NP_004975.2:p.Arg280Pro
NM_001354705.2:c.572G>C	NP_001341634.1:p.Arg191Pro