Canonical Allele Identifier: CA5852973

Gene: SMPD1

Linked Data

• dbSNP Id: rs765278505
• ExAC: 11:6415643 C / T
• gnomAD v3: 11-6394413-C-T
• gnomAD v4: 11-6394413-C-T
• MyVariant Identifiers: chr11:g.6415643C>T (hg19) ; chr11:g.6394413C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394413C>T , CM000673.2:g.6394413C>T	GRCh38
NC_000011.9:g.6415643C>T , CM000673.1:g.6415643C>T	GRCh37
NC_000011.8:g.6372219C>T	NCBI36
NG_011780.1:g.8989C>T
NG_029615.1:g.30002G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1702C>T MANE Select	ENSP00000340409.4:p.Leu568Phe
ENST00000342245.8:c.1702C>T	ENSP00000340409.4:p.Leu568Phe
ENST00000526280.1:c.759C>T
ENST00000527275.5:c.1699C>T	ENSP00000435350.1:p.Leu567Phe
ENST00000531303.5:c.*553C>T	ENSP00000432625.1:n.*553C>T
ENST00000533123.5:c.*429C>T	ENSP00000435950.1:n.*429C>T
ENST00000534405.5:c.*533C>T	ENSP00000434353.1:n.*533C>T
NM_000543.4:c.1702C>T	NP_000534.3:p.Leu568Phe
NM_001007593.2:c.1699C>T	NP_001007594.2:p.Leu567Phe
XM_005253075.3:c.*195C>T	XP_005253132.1:n.*195C>T
XM_011520303.1:c.1570C>T	XP_011518605.1:p.Leu524Phe
XM_011520304.1:c.*195C>T	XP_011518606.1:n.*195C>T
NM_001318087.1:c.*195C>T	NP_001305016.1:n.*195C>T
NM_001318088.1:c.781C>T	NP_001305017.1:p.Leu261Phe
NM_001365135.1:c.1570C>T	NP_001352064.1:p.Leu524Phe
NR_027400.2:n.1715C>T
NR_134502.1:n.1254C>T
XM_011520304.2:c.*195C>T	XP_011518606.1:n.*195C>T
XR_001747940.2:n.1887C>T
XR_002957158.1:n.2069C>T
NM_000543.5:c.1702C>T MANE Select	NP_000534.3:p.Leu568Phe
NM_001007593.3:c.1699C>T	NP_001007594.2:p.Leu567Phe
NM_001318087.2:c.*195C>T	NP_001305016.1:n.*195C>T
NM_001318088.2:c.781C>T	NP_001305017.1:p.Leu261Phe
NM_001365135.2:c.1570C>T	NP_001352064.1:p.Leu524Phe
NR_027400.3:n.1655C>T
NR_134502.2:n.1194C>T