Canonical Allele Identifier: CA5852678

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 371576
• ClinVar RCV Id: RCV000409846 ; RCV000780730 ; RCV001248930 ; RCV001250174
• dbSNP Id: rs750779804
• ExAC: 11:6413043 A / C
• gnomAD v2: 11-6413043-A-C
• gnomAD v4: 11-6391813-A-C
• MyVariant Identifiers: chr11:g.6413043A>C (hg19) ; chr11:g.6391813A>C (hg38)
• PubMed: PMID:12556236 ; PMID:15877209 ; PMID:16151905 ; PMID:16642440 ; PMID:23356216 ; PMID:23430884

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391813A>C , CM000673.2:g.6391813A>C	GRCh38
NC_000011.9:g.6413043A>C , CM000673.1:g.6413043A>C	GRCh37
NC_000011.8:g.6369619A>C	NCBI36
NG_011780.1:g.6389A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.748A>C MANE Select	ENSP00000340409.4:p.Ser250Arg
ENST00000342245.8:c.748A>C	ENSP00000340409.4:p.Ser250Arg
ENST00000527275.5:c.745A>C	ENSP00000435350.1:p.Ser249Arg
ENST00000530395.1:c.-72A>C	ENSP00000431479.1:n.-72A>C
ENST00000531303.5:c.438+310A>C	ENSP00000432625.1:n.438+310A>C
ENST00000533123.5:c.748A>C	ENSP00000435950.1:p.Ser250Arg
ENST00000533196.1:n.375-193A>C
ENST00000534405.5:c.748A>C	ENSP00000434353.1:p.Ser250Arg
NM_000543.4:c.748A>C	NP_000534.3:p.Ser250Arg
NM_001007593.2:c.745A>C	NP_001007594.2:p.Ser249Arg
XM_005253075.3:c.748A>C	XP_005253132.1:p.Ser250Arg
XM_011520303.1:c.748A>C	XP_011518605.1:p.Ser250Arg
XM_011520304.1:c.748A>C	XP_011518606.1:p.Ser250Arg
XR_930886.1:n.1046A>C
NM_001318087.1:c.748A>C	NP_001305016.1:p.Ser250Arg
NM_001318088.1:c.-214A>C	NP_001305017.1:n.-214A>C
NM_001365135.1:c.748A>C	NP_001352064.1:p.Ser250Arg
NR_027400.2:n.933A>C
NR_134502.1:n.623+310A>C
XM_011520304.2:c.748A>C	XP_011518606.1:p.Ser250Arg
XR_001747940.2:n.873A>C
XR_002957158.1:n.873A>C
NM_000543.5:c.748A>C MANE Select	NP_000534.3:p.Ser250Arg
NM_001007593.3:c.745A>C	NP_001007594.2:p.Ser249Arg
NM_001318087.2:c.748A>C	NP_001305016.1:p.Ser250Arg
NM_001318088.2:c.-214A>C	NP_001305017.1:n.-214A>C
NM_001365135.2:c.748A>C	NP_001352064.1:p.Ser250Arg
NR_027400.3:n.873A>C
NR_134502.2:n.563+310A>C