Canonical Allele Identifier: CA5852879

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 497294
• ClinVar RCV Id: RCV000593182 ; RCV001078998 ; RCV003952943
• dbSNP Id: rs528939343
• ExAC: 11:6415117 T / C
• gnomAD v2: 11-6415117-T-C
• gnomAD v3: 11-6393887-T-C
• gnomAD v4: 11-6393887-T-C
• MyVariant Identifiers: chr11:g.6415117T>C (hg19) ; chr11:g.6393887T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393887T>C , CM000673.2:g.6393887T>C	GRCh38
NC_000011.9:g.6415117T>C , CM000673.1:g.6415117T>C	GRCh37
NC_000011.8:g.6371693T>C	NCBI36
NG_011780.1:g.8463T>C
NG_029615.1:g.30528A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1341-9T>C MANE Select	ENSP00000340409.4:n.1341-9T>C
ENST00000342245.8:c.1341-9T>C	ENSP00000340409.4:n.1341-9T>C
ENST00000526280.1:c.398-9T>C
ENST00000527275.5:c.1338-9T>C	ENSP00000435350.1:n.1338-9T>C
ENST00000531303.5:c.*172-9T>C	ENSP00000432625.1:n.*172-9T>C
ENST00000531336.1:n.173-9T>C
ENST00000532367.1:n.177-9T>C
ENST00000533123.5:c.*68-9T>C	ENSP00000435950.1:n.*68-9T>C
ENST00000534405.5:c.*172-9T>C	ENSP00000434353.1:n.*172-9T>C
NM_000543.4:c.1341-9T>C	NP_000534.3:n.1341-9T>C
NM_001007593.2:c.1338-9T>C	NP_001007594.2:n.1338-9T>C
XM_005253075.3:c.1341-9T>C	XP_005253132.1:n.1341-9T>C
XM_011520303.1:c.1209-9T>C	XP_011518605.1:n.1209-9T>C
XM_011520304.1:c.1209-9T>C	XP_011518606.1:n.1209-9T>C
XR_930886.1:n.1679-9T>C
NM_001318087.1:c.1341-9T>C	NP_001305016.1:n.1341-9T>C
NM_001318088.1:c.420-9T>C	NP_001305017.1:n.420-9T>C
NM_001365135.1:c.1209-9T>C	NP_001352064.1:n.1209-9T>C
NR_027400.2:n.1354-9T>C
NR_134502.1:n.873-9T>C
XM_011520304.2:c.1209-9T>C	XP_011518606.1:n.1209-9T>C
XR_001747940.2:n.1506-9T>C
XR_002957158.1:n.1699T>C
NM_000543.5:c.1341-9T>C MANE Select	NP_000534.3:n.1341-9T>C
NM_001007593.3:c.1338-9T>C	NP_001007594.2:n.1338-9T>C
NM_001318087.2:c.1341-9T>C	NP_001305016.1:n.1341-9T>C
NM_001318088.2:c.420-9T>C	NP_001305017.1:n.420-9T>C
NM_001365135.2:c.1209-9T>C	NP_001352064.1:n.1209-9T>C
NR_027400.3:n.1294-9T>C
NR_134502.2:n.813-9T>C