Canonical Allele Identifier: CA679148492

Gene: SMPD1

Linked Data

• dbSNP Id: rs1437812214
• gnomAD v3: 11-6390486-A-G
• gnomAD v4: 11-6390486-A-G
• MyVariant Identifiers: chr11:g.6411716A>G (hg19) ; chr11:g.6390486A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390486A>G , CM000673.2:g.6390486A>G	GRCh38
NC_000011.9:g.6411716A>G , CM000673.1:g.6411716A>G	GRCh37
NC_000011.8:g.6368292A>G	NCBI36
NG_011780.1:g.5062A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.-113A>G MANE Select	ENSP00000340409.4:n.-113A>G
ENST00000342245.8:c.-113A>G	ENSP00000340409.4:n.-113A>G
ENST00000527275.5:c.-113A>G	ENSP00000435350.1:n.-113A>G
ENST00000530395.1:c.-249A>G	ENSP00000431479.1:n.-249A>G
ENST00000533196.1:n.47A>G
ENST00000534405.5:c.-113A>G	ENSP00000434353.1:n.-113A>G
NM_000543.4:c.-113A>G	NP_000534.3:n.-113A>G
NM_001007593.2:c.-113A>G	NP_001007594.2:n.-113A>G
XM_005253075.3:c.-113A>G	XP_005253132.1:n.-113A>G
XM_011520303.1:c.-113A>G	XP_011518605.1:n.-113A>G
XM_011520304.1:c.-113A>G	XP_011518606.1:n.-113A>G
XR_930886.1:n.186A>G
NM_001318087.1:c.-113A>G	NP_001305016.1:n.-113A>G
NM_001318088.1:c.-1074A>G	NP_001305017.1:n.-1074A>G
NM_001365135.1:c.-113A>G	NP_001352064.1:n.-113A>G
NR_027400.2:n.73A>G
NR_134502.1:n.73A>G
XM_011520304.2:c.-113A>G	XP_011518606.1:n.-113A>G
XR_001747940.2:n.13A>G
XR_002957158.1:n.13A>G
NM_000543.5:c.-113A>G MANE Select	NP_000534.3:n.-113A>G
NM_001007593.3:c.-113A>G	NP_001007594.2:n.-113A>G
NM_001318087.2:c.-113A>G	NP_001305016.1:n.-113A>G
NM_001318088.2:c.-1074A>G	NP_001305017.1:n.-1074A>G
NM_001365135.2:c.-113A>G	NP_001352064.1:n.-113A>G
NR_027400.3:n.13A>G
NR_134502.2:n.13A>G