Canonical Allele Identifier: CA385500567

Gene: KIF5A

Linked Data

• ClinVar Variation Id: 989072
• ClinVar RCV Id: RCV001391461
• dbSNP Id: rs2140162883
• MyVariant Identifiers: chr12:g.57963073C>T (hg19) ; chr12:g.57569290C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.57569290C>T , CM000674.2:g.57569290C>T	GRCh38
NC_000012.11:g.57963073C>T , CM000674.1:g.57963073C>T	GRCh37
NC_000012.10:g.56249340C>T	NCBI36
NG_008155.1:g.24227C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000455537.7:c.854C>T MANE Select	ENSP00000408979.2:p.Thr285Ile
ENST00000674619.1:c.854C>T	ENSP00000502270.1:p.Thr285Ile
ENST00000676457.1:c.749C>T	ENSP00000501588.1:p.Thr250Ile
ENST00000286452.5:c.587C>T	ENSP00000286452.5:p.Thr196Ile
ENST00000455537.6:c.854C>T	ENSP00000408979.2:p.Thr285Ile
NM_004984.2:c.854C>T	NP_004975.2:p.Thr285Ile
NM_001354705.1:c.587C>T	NP_001341634.1:p.Thr196Ile
NM_004984.3:c.854C>T	NP_004975.2:p.Thr285Ile
XR_002957324.1:n.1087C>T
NM_004984.4:c.854C>T MANE Select	NP_004975.2:p.Thr285Ile
NM_001354705.2:c.587C>T	NP_001341634.1:p.Thr196Ile