Canonical Allele Identifier: CA217302641

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1578620
• ClinVar RCV Id: RCV002083679 ; RCV003958624
• dbSNP Id: rs944330326
• gnomAD v2: 11-6415468-C-T
• gnomAD v3: 11-6394238-C-T
• gnomAD v4: 11-6394238-C-T
• MyVariant Identifiers: chr11:g.6415468C>T (hg19) ; chr11:g.6394238C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394238C>T , CM000673.2:g.6394238C>T	GRCh38
NC_000011.9:g.6415468C>T , CM000673.1:g.6415468C>T	GRCh37
NC_000011.8:g.6372044C>T	NCBI36
NG_011780.1:g.8814C>T
NG_029615.1:g.30177G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1527C>T MANE Select	ENSP00000340409.4:p.Ser509=
ENST00000342245.8:c.1527C>T	ENSP00000340409.4:p.Ser509=
ENST00000526280.1:c.584C>T
ENST00000527275.5:c.1524C>T	ENSP00000435350.1:p.Ser508=
ENST00000531303.5:c.*378C>T	ENSP00000432625.1:n.*378C>T
ENST00000531336.1:n.515C>T
ENST00000533123.5:c.*254C>T	ENSP00000435950.1:n.*254C>T
ENST00000534405.5:c.*358C>T	ENSP00000434353.1:n.*358C>T
NM_000543.4:c.1527C>T	NP_000534.3:p.Ser509=
NM_001007593.2:c.1524C>T	NP_001007594.2:p.Ser508=
XM_005253075.3:c.*20C>T	XP_005253132.1:n.*20C>T
XM_011520303.1:c.1395C>T	XP_011518605.1:p.Ser465=
XM_011520304.1:c.*20C>T	XP_011518606.1:n.*20C>T
NM_001318087.1:c.*20C>T	NP_001305016.1:n.*20C>T
NM_001318088.1:c.606C>T	NP_001305017.1:p.Ser202=
NM_001365135.1:c.1395C>T	NP_001352064.1:p.Ser465=
NR_027400.2:n.1540C>T
NR_134502.1:n.1079C>T
XM_011520304.2:c.*20C>T	XP_011518606.1:n.*20C>T
XR_001747940.2:n.1712C>T
XR_002957158.1:n.1894C>T
NM_000543.5:c.1527C>T MANE Select	NP_000534.3:p.Ser509=
NM_001007593.3:c.1524C>T	NP_001007594.2:p.Ser508=
NM_001318087.2:c.*20C>T	NP_001305016.1:n.*20C>T
NM_001318088.2:c.606C>T	NP_001305017.1:p.Ser202=
NM_001365135.2:c.1395C>T	NP_001352064.1:p.Ser465=
NR_027400.3:n.1480C>T
NR_134502.2:n.1019C>T