Canonical Allele Identifier: CA385500471

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 424658
• ClinVar RCV Id: RCV000516067 ; RCV001391460
• dbSNP Id: rs1555177824
• MyVariant Identifiers: chr12:g.57963052C>T (hg19) ; chr12:g.57569269C>T (hg38)
• PubMed: PMID:28832565

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57569269C>T , CM000674.2:g.57569269C>T	GRCh38
NC_000012.11:g.57963052C>T , CM000674.1:g.57963052C>T	GRCh37
NC_000012.10:g.56249319C>T	NCBI36
NG_008155.1:g.24206C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.833C>T MANE Select	ENSP00000408979.2:p.Pro278Leu
ENST00000674619.1:c.833C>T	ENSP00000502270.1:p.Pro278Leu
ENST00000676457.1:c.728C>T	ENSP00000501588.1:p.Pro243Leu
ENST00000286452.5:c.566C>T	ENSP00000286452.5:p.Pro189Leu
ENST00000455537.6:c.833C>T	ENSP00000408979.2:p.Pro278Leu
NM_004984.2:c.833C>T	NP_004975.2:p.Pro278Leu
NM_001354705.1:c.566C>T	NP_001341634.1:p.Pro189Leu
NM_004984.3:c.833C>T	NP_004975.2:p.Pro278Leu
XR_002957324.1:n.1066C>T
NM_004984.4:c.833C>T MANE Select	NP_004975.2:p.Pro278Leu
NM_001354705.2:c.566C>T	NP_001341634.1:p.Pro189Leu