Canonical Allele Identifier: CA16041487

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 371672
• ClinVar RCV Id: RCV000410844 ; RCV001249041
• dbSNP Id: rs1057516854
• gnomAD v2: 11-6415125-G-T
• gnomAD v4: 11-6393895-G-T
• MyVariant Identifiers: chr11:g.6415125G>T (hg19) ; chr11:g.6393895G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393895G>T , CM000673.2:g.6393895G>T	GRCh38
NC_000011.9:g.6415125G>T , CM000673.1:g.6415125G>T	GRCh37
NC_000011.8:g.6371701G>T	NCBI36
NG_011780.1:g.8471G>T
NG_029615.1:g.30520C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1341-1G>T MANE Select	ENSP00000340409.4:n.1341-1G>T
ENST00000342245.8:c.1341-1G>T	ENSP00000340409.4:n.1341-1G>T
ENST00000526280.1:c.398-1G>T
ENST00000527275.5:c.1338-1G>T	ENSP00000435350.1:n.1338-1G>T
ENST00000531303.5:c.*172-1G>T	ENSP00000432625.1:n.*172-1G>T
ENST00000531336.1:n.173-1G>T
ENST00000532367.1:n.177-1G>T
ENST00000533123.5:c.*68-1G>T	ENSP00000435950.1:n.*68-1G>T
ENST00000534405.5:c.*172-1G>T	ENSP00000434353.1:n.*172-1G>T
NM_000543.4:c.1341-1G>T	NP_000534.3:n.1341-1G>T
NM_001007593.2:c.1338-1G>T	NP_001007594.2:n.1338-1G>T
XM_005253075.3:c.1341-1G>T	XP_005253132.1:n.1341-1G>T
XM_011520303.1:c.1209-1G>T	XP_011518605.1:n.1209-1G>T
XM_011520304.1:c.1209-1G>T	XP_011518606.1:n.1209-1G>T
XR_930886.1:n.1679-1G>T
NM_001318087.1:c.1341-1G>T	NP_001305016.1:n.1341-1G>T
NM_001318088.1:c.420-1G>T	NP_001305017.1:n.420-1G>T
NM_001365135.1:c.1209-1G>T	NP_001352064.1:n.1209-1G>T
NR_027400.2:n.1354-1G>T
NR_134502.1:n.873-1G>T
XM_011520304.2:c.1209-1G>T	XP_011518606.1:n.1209-1G>T
XR_001747940.2:n.1506-1G>T
XR_002957158.1:n.1707G>T
NM_000543.5:c.1341-1G>T MANE Select	NP_000534.3:n.1341-1G>T
NM_001007593.3:c.1338-1G>T	NP_001007594.2:n.1338-1G>T
NM_001318087.2:c.1341-1G>T	NP_001305016.1:n.1341-1G>T
NM_001318088.2:c.420-1G>T	NP_001305017.1:n.420-1G>T
NM_001365135.2:c.1209-1G>T	NP_001352064.1:n.1209-1G>T
NR_027400.3:n.1294-1G>T
NR_134502.2:n.813-1G>T