Canonical Allele Identifier: CA379372985

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6393259-C-G
• MyVariant Identifiers: chr11:g.6414489C>G (hg19) ; chr11:g.6393259C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393259C>G , CM000673.2:g.6393259C>G	GRCh38
NC_000011.9:g.6414489C>G , CM000673.1:g.6414489C>G	GRCh37
NC_000011.8:g.6371065C>G	NCBI36
NG_011780.1:g.7835C>G
NG_029615.1:g.31156G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1135C>G MANE Select	ENSP00000340409.4:p.Leu379Val
ENST00000342245.8:c.1135C>G	ENSP00000340409.4:p.Leu379Val
ENST00000526280.1:c.321-358C>G
ENST00000527275.5:c.1132C>G	ENSP00000435350.1:p.Leu378Val
ENST00000531303.5:c.482C>G	ENSP00000432625.1:p.Pro161Arg
ENST00000533123.5:c.1092-358C>G	ENSP00000435950.1:n.1092-358C>G
ENST00000534405.5:c.1175C>G	ENSP00000434353.1:p.Pro392Arg
NM_000543.4:c.1135C>G	NP_000534.3:p.Leu379Val
NM_001007593.2:c.1132C>G	NP_001007594.2:p.Leu378Val
XM_005253075.3:c.1135C>G	XP_005253132.1:p.Leu379Val
XM_011520303.1:c.1132-358C>G	XP_011518605.1:n.1132-358C>G
XM_011520304.1:c.1132-358C>G	XP_011518606.1:n.1132-358C>G
XR_930886.1:n.1473C>G
NM_001318087.1:c.1135C>G	NP_001305016.1:p.Leu379Val
NM_001318088.1:c.214C>G	NP_001305017.1:p.Leu72Val
NM_001365135.1:c.1132-358C>G	NP_001352064.1:n.1132-358C>G
NR_027400.2:n.1277-358C>G
NR_134502.1:n.667C>G
XM_011520304.2:c.1132-358C>G	XP_011518606.1:n.1132-358C>G
XR_001747940.2:n.1300C>G
XR_002957158.1:n.1300C>G
NM_000543.5:c.1135C>G MANE Select	NP_000534.3:p.Leu379Val
NM_001007593.3:c.1132C>G	NP_001007594.2:p.Leu378Val
NM_001318087.2:c.1135C>G	NP_001305016.1:p.Leu379Val
NM_001318088.2:c.214C>G	NP_001305017.1:p.Leu72Val
NM_001365135.2:c.1132-358C>G	NP_001352064.1:n.1132-358C>G
NR_027400.3:n.1217-358C>G
NR_134502.2:n.607C>G