Canonical Allele Identifier: CA379373161

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6414519C>G (hg19) ; chr11:g.6393289C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393289C>G , CM000673.2:g.6393289C>G	GRCh38
NC_000011.9:g.6414519C>G , CM000673.1:g.6414519C>G	GRCh37
NC_000011.8:g.6371095C>G	NCBI36
NG_011780.1:g.7865C>G
NG_029615.1:g.31126G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1165C>G MANE Select	ENSP00000340409.4:p.Arg389Gly
ENST00000342245.8:c.1165C>G	ENSP00000340409.4:p.Arg389Gly
ENST00000526280.1:c.321-328C>G
ENST00000527275.5:c.1162C>G	ENSP00000435350.1:p.Arg388Gly
ENST00000531303.5:c.512C>G	ENSP00000432625.1:p.Pro171Arg
ENST00000533123.5:c.1092-328C>G	ENSP00000435950.1:n.1092-328C>G
ENST00000534405.5:c.1205C>G	ENSP00000434353.1:p.Pro402Arg
NM_000543.4:c.1165C>G	NP_000534.3:p.Arg389Gly
NM_001007593.2:c.1162C>G	NP_001007594.2:p.Arg388Gly
XM_005253075.3:c.1165C>G	XP_005253132.1:p.Arg389Gly
XM_011520303.1:c.1132-328C>G	XP_011518605.1:n.1132-328C>G
XM_011520304.1:c.1132-328C>G	XP_011518606.1:n.1132-328C>G
XR_930886.1:n.1503C>G
NM_001318087.1:c.1165C>G	NP_001305016.1:p.Arg389Gly
NM_001318088.1:c.244C>G	NP_001305017.1:p.Arg82Gly
NM_001365135.1:c.1132-328C>G	NP_001352064.1:n.1132-328C>G
NR_027400.2:n.1277-328C>G
NR_134502.1:n.697C>G
XM_011520304.2:c.1132-328C>G	XP_011518606.1:n.1132-328C>G
XR_001747940.2:n.1330C>G
XR_002957158.1:n.1330C>G
NM_000543.5:c.1165C>G MANE Select	NP_000534.3:p.Arg389Gly
NM_001007593.3:c.1162C>G	NP_001007594.2:p.Arg388Gly
NM_001318087.2:c.1165C>G	NP_001305016.1:p.Arg389Gly
NM_001318088.2:c.244C>G	NP_001305017.1:p.Arg82Gly
NM_001365135.2:c.1132-328C>G	NP_001352064.1:n.1132-328C>G
NR_027400.3:n.1217-328C>G
NR_134502.2:n.637C>G