Canonical Allele Identifier: CA5852714

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1095090
• ClinVar RCV Id: RCV001415871
• dbSNP Id: rs764694813
• ExAC: 11:6413243 T / G
• gnomAD v2: 11-6413243-T-G
• gnomAD v4: 11-6392013-T-G
• MyVariant Identifiers: chr11:g.6413243T>G (hg19) ; chr11:g.6392013T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392013T>G , CM000673.2:g.6392013T>G	GRCh38
NC_000011.9:g.6413243T>G , CM000673.1:g.6413243T>G	GRCh37
NC_000011.8:g.6369819T>G	NCBI36
NG_011780.1:g.6589T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.948T>G MANE Select	ENSP00000340409.4:p.Pro316=
ENST00000342245.8:c.948T>G	ENSP00000340409.4:p.Pro316=
ENST00000526280.1:c.137T>G
ENST00000527275.5:c.945T>G	ENSP00000435350.1:p.Pro315=
ENST00000530395.1:c.129T>G	ENSP00000431479.1:p.Pro43=
ENST00000531303.5:c.438+510T>G	ENSP00000432625.1:n.438+510T>G
ENST00000533123.5:c.948T>G	ENSP00000435950.1:p.Pro316=
ENST00000533196.1:n.382T>G
ENST00000534405.5:c.948T>G	ENSP00000434353.1:p.Pro316=
NM_000543.4:c.948T>G	NP_000534.3:p.Pro316=
NM_001007593.2:c.945T>G	NP_001007594.2:p.Pro315=
XM_005253075.3:c.948T>G	XP_005253132.1:p.Pro316=
XM_011520303.1:c.948T>G	XP_011518605.1:p.Pro316=
XM_011520304.1:c.948T>G	XP_011518606.1:p.Pro316=
XR_930886.1:n.1246T>G
NM_001318087.1:c.948T>G	NP_001305016.1:p.Pro316=
NM_001318088.1:c.-14T>G	NP_001305017.1:n.-14T>G
NM_001365135.1:c.948T>G	NP_001352064.1:p.Pro316=
NR_027400.2:n.1133T>G
NR_134502.1:n.623+510T>G
XM_011520304.2:c.948T>G	XP_011518606.1:p.Pro316=
XR_001747940.2:n.1073T>G
XR_002957158.1:n.1073T>G
NM_000543.5:c.948T>G MANE Select	NP_000534.3:p.Pro316=
NM_001007593.3:c.945T>G	NP_001007594.2:p.Pro315=
NM_001318087.2:c.948T>G	NP_001305016.1:p.Pro316=
NM_001318088.2:c.-14T>G	NP_001305017.1:n.-14T>G
NM_001365135.2:c.948T>G	NP_001352064.1:p.Pro316=
NR_027400.3:n.1073T>G
NR_134502.2:n.563+510T>G