Canonical Allele Identifier: CA5852801

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 289909
• ClinVar RCV Id: RCV000355725 ; RCV002059274
• dbSNP Id: rs570674743
• ExAC: 11:6414519 C / T
• gnomAD v2: 11-6414519-C-T
• gnomAD v3: 11-6393289-C-T
• gnomAD v4: 11-6393289-C-T
• COSMIC: COSM4728553
• MyVariant Identifiers: chr11:g.6414519C>T (hg19) ; chr11:g.6393289C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1165C>T MANE Select	ENSP00000340409.4:p.Arg389Cys
ENST00000342245.8:c.1165C>T	ENSP00000340409.4:p.Arg389Cys
ENST00000526280.1:c.321-328C>T
ENST00000527275.5:c.1162C>T	ENSP00000435350.1:p.Arg388Cys
ENST00000531303.5:c.512C>T	ENSP00000432625.1:p.Pro171Leu
ENST00000533123.5:c.1092-328C>T	ENSP00000435950.1:n.1092-328C>T
ENST00000534405.5:c.1205C>T	ENSP00000434353.1:p.Pro402Leu
NM_000543.4:c.1165C>T	NP_000534.3:p.Arg389Cys
NM_001007593.2:c.1162C>T	NP_001007594.2:p.Arg388Cys
XM_005253075.3:c.1165C>T	XP_005253132.1:p.Arg389Cys
XM_011520303.1:c.1132-328C>T	XP_011518605.1:n.1132-328C>T
XM_011520304.1:c.1132-328C>T	XP_011518606.1:n.1132-328C>T
XR_930886.1:n.1503C>T
NM_001318087.1:c.1165C>T	NP_001305016.1:p.Arg389Cys
NM_001318088.1:c.244C>T	NP_001305017.1:p.Arg82Cys
NM_001365135.1:c.1132-328C>T	NP_001352064.1:n.1132-328C>T
NR_027400.2:n.1277-328C>T
NR_134502.1:n.697C>T
XM_011520304.2:c.1132-328C>T	XP_011518606.1:n.1132-328C>T
XR_001747940.2:n.1330C>T
XR_002957158.1:n.1330C>T
NM_000543.5:c.1165C>T MANE Select	NP_000534.3:p.Arg389Cys
NM_001007593.3:c.1162C>T	NP_001007594.2:p.Arg388Cys
NM_001318087.2:c.1165C>T	NP_001305016.1:p.Arg389Cys
NM_001318088.2:c.244C>T	NP_001305017.1:p.Arg82Cys
NM_001365135.2:c.1132-328C>T	NP_001352064.1:n.1132-328C>T
NR_027400.3:n.1217-328C>T
NR_134502.2:n.637C>T