Canonical Allele Identifier: CA10074308

Gene: SPATC1L

Linked Data

• ClinVar Variation Id: 403469
• ClinVar RCV Id: RCV000455748 ; RCV001672774
• dbSNP Id: rs113710653
• ExAC: 21:47581835 C / T
• gnomAD v2: 21-47581835-C-T
• gnomAD v3: 21-46161921-C-T
• gnomAD v4: 21-46161921-C-T
• MyVariant Identifiers: chr21:g.47581835C>T (hg19) ; chr21:g.46161921C>T (hg38)

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