Canonical Allele Identifier: CA6653307
Community Standard Title: NM_004984.4(KIF5A):c.3032C>T (p.Pro1011Leu)
Gene: KIF5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57583112C>T , CM000674.2:g.57583112C>T GRCh38
NC_000012.11:g.57976895C>T , CM000674.1:g.57976895C>T GRCh37
NC_000012.10:g.56263162C>T NCBI36
NG_008155.1:g.38049C>T

Transcript Alleles

HGVS Amino-acid Change
NM_004984.4:c.3032C>T MANE Select NP_004975.2:p.Pro1011Leu
ENST00000455537.7:c.3032C>T MANE Select ENSP00000408979.2:p.Pro1011Leu
NM_001354705.1:c.2765C>T NP_001341634.1:p.Pro922Leu
NM_001354705.2:c.2765C>T NP_001341634.1:p.Pro922Leu
NM_004984.2:c.3032C>T NP_004975.2:p.Pro1011Leu
NM_004984.3:c.3032C>T NP_004975.2:p.Pro1011Leu
ENST00000286452.5:c.2765C>T ENSP00000286452.5:p.Pro922Leu
ENST00000455537.6:c.3032C>T ENSP00000408979.2:p.Pro1011Leu
ENST00000674619.1:c.3053C>T ENSP00000502270.1:p.Pro1018Leu
ENST00000674858.1:c.12C>T
ENST00000674980.1:c.12C>T
ENST00000675201.1:n.47C>T
ENST00000675433.1:c.12C>T
ENST00000675697.1:c.95C>T
ENST00000675737.1:n.1556C>T
ENST00000675866.1:c.28+483C>T
ENST00000675882.1:n.3026C>T
ENST00000675929.1:n.2061C>T
ENST00000676265.1:n.125C>T
ENST00000676437.1:c.528C>T
ENST00000676457.1:c.2927C>T ENSP00000501588.1:p.Pro976Leu
XR_002957324.1:n.3736C>T