Canonical Allele Identifier: CA379376203

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 437453
• ClinVar RCV Id: RCV000504182 ; RCV002524354
• dbSNP Id: rs371837210
• gnomAD v4: 11-6394267-A-G
• MyVariant Identifiers: chr11:g.6415497A>G (hg19) ; chr11:g.6394267A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394267A>G , CM000673.2:g.6394267A>G	GRCh38
NC_000011.9:g.6415497A>G , CM000673.1:g.6415497A>G	GRCh37
NC_000011.8:g.6372073A>G	NCBI36
NG_011780.1:g.8843A>G
NG_029615.1:g.30148T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1556A>G MANE Select	ENSP00000340409.4:p.Tyr519Cys
ENST00000342245.8:c.1556A>G	ENSP00000340409.4:p.Tyr519Cys
ENST00000526280.1:c.613A>G
ENST00000527275.5:c.1553A>G	ENSP00000435350.1:p.Tyr518Cys
ENST00000531303.5:c.*407A>G	ENSP00000432625.1:n.*407A>G
ENST00000531336.1:n.544A>G
ENST00000533123.5:c.*283A>G	ENSP00000435950.1:n.*283A>G
ENST00000534405.5:c.*387A>G	ENSP00000434353.1:n.*387A>G
NM_000543.4:c.1556A>G	NP_000534.3:p.Tyr519Cys
NM_001007593.2:c.1553A>G	NP_001007594.2:p.Tyr518Cys
XM_005253075.3:c.*49A>G	XP_005253132.1:n.*49A>G
XM_011520303.1:c.1424A>G	XP_011518605.1:p.Tyr475Cys
XM_011520304.1:c.*49A>G	XP_011518606.1:n.*49A>G
NM_001318087.1:c.*49A>G	NP_001305016.1:n.*49A>G
NM_001318088.1:c.635A>G	NP_001305017.1:p.Tyr212Cys
NM_001365135.1:c.1424A>G	NP_001352064.1:p.Tyr475Cys
NR_027400.2:n.1569A>G
NR_134502.1:n.1108A>G
XM_011520304.2:c.*49A>G	XP_011518606.1:n.*49A>G
XR_001747940.2:n.1741A>G
XR_002957158.1:n.1923A>G
NM_000543.5:c.1556A>G MANE Select	NP_000534.3:p.Tyr519Cys
NM_001007593.3:c.1553A>G	NP_001007594.2:p.Tyr518Cys
NM_001318087.2:c.*49A>G	NP_001305016.1:n.*49A>G
NM_001318088.2:c.635A>G	NP_001305017.1:p.Tyr212Cys
NM_001365135.2:c.1424A>G	NP_001352064.1:p.Tyr475Cys
NR_027400.3:n.1509A>G
NR_134502.2:n.1048A>G