Canonical Allele Identifier: CA10074308
Gene: SPATC1L HGNC NCBI

Linked Data

ClinVar Variation Id: 403469
dbSNP Id: rs113710653

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46161921C>T , CM000683.2:g.46161921C>T GRCh38
NC_000021.8:g.47581835C>T , CM000683.1:g.47581835C>T GRCh37
NC_000021.7:g.46406263C>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000291672.6:c.691G>A MANE Select ENSP00000291672.5:p.Glu231Lys
ENST00000291672.5:c.691G>A ENSP00000291672.5:p.Glu231Lys
ENST00000330205.10:c.229G>A ENSP00000333869.6:p.Glu77Lys
NM_001142854.1:c.691G>A NP_001136326.1:p.Glu231Lys
NM_032261.4:c.229G>A NP_115637.3:p.Glu77Lys
XM_005261188.3:c.691G>A XP_005261245.1:p.Glu231Lys
XM_011529756.1:c.349G>A XP_011528058.1:p.Glu117Lys
XM_005261188.5:c.691G>A XP_005261245.1:p.Glu231Lys
XM_011529756.2:c.349G>A XP_011528058.1:p.Glu117Lys
XM_017028480.2:c.691G>A XP_016883969.1:p.Glu231Lys
NM_001142854.2:c.691G>A MANE Select NP_001136326.1:p.Glu231Lys
NM_032261.5:c.229G>A NP_115637.3:p.Glu77Lys