Canonical Allele Identifier: CA5852981

Gene: SMPD1

Linked Data

• dbSNP Id: rs373940701
• ExAC: 11:6415689 C / T
• gnomAD v2: 11-6415689-C-T
• gnomAD v3: 11-6394459-C-T
• gnomAD v4: 11-6394459-C-T
• MyVariant Identifiers: chr11:g.6415689C>T (hg19) ; chr11:g.6394459C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394459C>T , CM000673.2:g.6394459C>T	GRCh38
NC_000011.9:g.6415689C>T , CM000673.1:g.6415689C>T	GRCh37
NC_000011.8:g.6372265C>T	NCBI36
NG_011780.1:g.9035C>T
NG_029615.1:g.29956G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1748C>T MANE Select	ENSP00000340409.4:p.Ser583Leu
ENST00000342245.8:c.1748C>T	ENSP00000340409.4:p.Ser583Leu
ENST00000526280.1:c.805C>T
ENST00000527275.5:c.1745C>T	ENSP00000435350.1:p.Ser582Leu
ENST00000531303.5:c.*599C>T	ENSP00000432625.1:n.*599C>T
ENST00000533123.5:c.*475C>T	ENSP00000435950.1:n.*475C>T
ENST00000534405.5:c.*579C>T	ENSP00000434353.1:n.*579C>T
NM_000543.4:c.1748C>T	NP_000534.3:p.Ser583Leu
NM_001007593.2:c.1745C>T	NP_001007594.2:p.Ser582Leu
XM_005253075.3:c.*241C>T	XP_005253132.1:n.*241C>T
XM_011520303.1:c.1616C>T	XP_011518605.1:p.Ser539Leu
XM_011520304.1:c.*241C>T	XP_011518606.1:n.*241C>T
NM_001318087.1:c.*241C>T	NP_001305016.1:n.*241C>T
NM_001318088.1:c.827C>T	NP_001305017.1:p.Ser276Leu
NM_001365135.1:c.1616C>T	NP_001352064.1:p.Ser539Leu
NR_027400.2:n.1761C>T
NR_134502.1:n.1300C>T
XM_011520304.2:c.*241C>T	XP_011518606.1:n.*241C>T
XR_001747940.2:n.1933C>T
XR_002957158.1:n.2115C>T
NM_000543.5:c.1748C>T MANE Select	NP_000534.3:p.Ser583Leu
NM_001007593.3:c.1745C>T	NP_001007594.2:p.Ser582Leu
NM_001318087.2:c.*241C>T	NP_001305016.1:n.*241C>T
NM_001318088.2:c.827C>T	NP_001305017.1:p.Ser276Leu
NM_001365135.2:c.1616C>T	NP_001352064.1:p.Ser539Leu
NR_027400.3:n.1701C>T
NR_134502.2:n.1240C>T