Canonical Allele Identifier: CA379371829

Gene: SMPD1

Linked Data

• dbSNP Id: rs201550531
• gnomAD v2: 11-6413349-G-C
• gnomAD v4: 11-6392119-G-C
• MyVariant Identifiers: chr11:g.6413349G>C (hg19) ; chr11:g.6392119G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392119G>C , CM000673.2:g.6392119G>C	GRCh38
NC_000011.9:g.6413349G>C , CM000673.1:g.6413349G>C	GRCh37
NC_000011.8:g.6369925G>C	NCBI36
NG_011780.1:g.6695G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1054G>C MANE Select	ENSP00000340409.4:p.Glu352Gln
ENST00000342245.8:c.1054G>C	ENSP00000340409.4:p.Glu352Gln
ENST00000526280.1:c.243G>C
ENST00000527275.5:c.1051G>C	ENSP00000435350.1:p.Glu351Gln
ENST00000531303.5:c.438+616G>C	ENSP00000432625.1:n.438+616G>C
ENST00000533123.5:c.1054G>C	ENSP00000435950.1:p.Glu352Gln
ENST00000534405.5:c.1054G>C	ENSP00000434353.1:p.Glu352Gln
NM_000543.4:c.1054G>C	NP_000534.3:p.Glu352Gln
NM_001007593.2:c.1051G>C	NP_001007594.2:p.Glu351Gln
XM_005253075.3:c.1054G>C	XP_005253132.1:p.Glu352Gln
XM_011520303.1:c.1054G>C	XP_011518605.1:p.Glu352Gln
XM_011520304.1:c.1054G>C	XP_011518606.1:p.Glu352Gln
XR_930886.1:n.1352G>C
NM_001318087.1:c.1054G>C	NP_001305016.1:p.Glu352Gln
NM_001318088.1:c.93G>C	NP_001305017.1:p.Gly31=
NM_001365135.1:c.1054G>C	NP_001352064.1:p.Glu352Gln
NR_027400.2:n.1239G>C
NR_134502.1:n.623+616G>C
XM_011520304.2:c.1054G>C	XP_011518606.1:p.Glu352Gln
XR_001747940.2:n.1179G>C
XR_002957158.1:n.1179G>C
NM_000543.5:c.1054G>C MANE Select	NP_000534.3:p.Glu352Gln
NM_001007593.3:c.1051G>C	NP_001007594.2:p.Glu351Gln
NM_001318087.2:c.1054G>C	NP_001305016.1:p.Glu352Gln
NM_001318088.2:c.93G>C	NP_001305017.1:p.Gly31=
NM_001365135.2:c.1054G>C	NP_001352064.1:p.Glu352Gln
NR_027400.3:n.1179G>C
NR_134502.2:n.563+616G>C