Canonical Allele Identifier: CA5852812

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1077432
• ClinVar RCV Id: RCV001392010
• dbSNP Id: rs771755385
• ExAC: 11:6414566 G / A
• gnomAD v2: 11-6414566-G-A
• gnomAD v3: 11-6393336-G-A
• gnomAD v4: 11-6393336-G-A
• MyVariant Identifiers: chr11:g.6414566G>A (hg19) ; chr11:g.6393336G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393336G>A , CM000673.2:g.6393336G>A	GRCh38
NC_000011.9:g.6414566G>A , CM000673.1:g.6414566G>A	GRCh37
NC_000011.8:g.6371142G>A	NCBI36
NG_011780.1:g.7912G>A
NG_029615.1:g.31079C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1212G>A MANE Select	ENSP00000340409.4:p.Gln404=
ENST00000342245.8:c.1212G>A	ENSP00000340409.4:p.Gln404=
ENST00000526280.1:c.321-281G>A
ENST00000527275.5:c.1209G>A	ENSP00000435350.1:p.Gln403=
ENST00000531303.5:c.*43G>A	ENSP00000432625.1:n.*43G>A
ENST00000531336.1:n.44G>A
ENST00000533123.5:c.1092-281G>A	ENSP00000435950.1:n.1092-281G>A
ENST00000534405.5:c.*43G>A	ENSP00000434353.1:n.*43G>A
NM_000543.4:c.1212G>A	NP_000534.3:p.Gln404=
NM_001007593.2:c.1209G>A	NP_001007594.2:p.Gln403=
XM_005253075.3:c.1212G>A	XP_005253132.1:p.Gln404=
XM_011520303.1:c.1132-281G>A	XP_011518605.1:n.1132-281G>A
XM_011520304.1:c.1132-281G>A	XP_011518606.1:n.1132-281G>A
XR_930886.1:n.1550G>A
NM_001318087.1:c.1212G>A	NP_001305016.1:p.Gln404=
NM_001318088.1:c.291G>A	NP_001305017.1:p.Gln97=
NM_001365135.1:c.1132-281G>A	NP_001352064.1:n.1132-281G>A
NR_027400.2:n.1277-281G>A
NR_134502.1:n.744G>A
XM_011520304.2:c.1132-281G>A	XP_011518606.1:n.1132-281G>A
XR_001747940.2:n.1377G>A
XR_002957158.1:n.1377G>A
NM_000543.5:c.1212G>A MANE Select	NP_000534.3:p.Gln404=
NM_001007593.3:c.1209G>A	NP_001007594.2:p.Gln403=
NM_001318087.2:c.1212G>A	NP_001305016.1:p.Gln404=
NM_001318088.2:c.291G>A	NP_001305017.1:p.Gln97=
NM_001365135.2:c.1132-281G>A	NP_001352064.1:n.1132-281G>A
NR_027400.3:n.1217-281G>A
NR_134502.2:n.684G>A