Canonical Allele Identifier: CA5852881

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 242451
• ClinVar RCV Id: RCV001384265
• dbSNP Id: rs747143343
• ExAC: 11:6415128 A / G
• gnomAD v2: 11-6415128-A-G
• gnomAD v3: 11-6393898-A-G
• gnomAD v4: 11-6393898-A-G
• MyVariant Identifiers: chr11:g.6415128A>G (hg19) ; chr11:g.6393898A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393898A>G , CM000673.2:g.6393898A>G	GRCh38
NC_000011.9:g.6415128A>G , CM000673.1:g.6415128A>G	GRCh37
NC_000011.8:g.6371704A>G	NCBI36
NG_011780.1:g.8474A>G
NG_029615.1:g.30517T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1343A>G MANE Select	ENSP00000340409.4:p.Tyr448Cys
ENST00000342245.8:c.1343A>G	ENSP00000340409.4:p.Tyr448Cys
ENST00000526280.1:c.400A>G
ENST00000527275.5:c.1340A>G	ENSP00000435350.1:p.Tyr447Cys
ENST00000531303.5:c.*174A>G	ENSP00000432625.1:n.*174A>G
ENST00000531336.1:n.175A>G
ENST00000532367.1:n.179A>G
ENST00000533123.5:c.*70A>G	ENSP00000435950.1:n.*70A>G
ENST00000534405.5:c.*174A>G	ENSP00000434353.1:n.*174A>G
NM_000543.4:c.1343A>G	NP_000534.3:p.Tyr448Cys
NM_001007593.2:c.1340A>G	NP_001007594.2:p.Tyr447Cys
XM_005253075.3:c.1343A>G	XP_005253132.1:p.Tyr448Cys
XM_011520303.1:c.1211A>G	XP_011518605.1:p.Tyr404Cys
XM_011520304.1:c.1211A>G	XP_011518606.1:p.Tyr404Cys
XR_930886.1:n.1681A>G
NM_001318087.1:c.1343A>G	NP_001305016.1:p.Tyr448Cys
NM_001318088.1:c.422A>G	NP_001305017.1:p.Tyr141Cys
NM_001365135.1:c.1211A>G	NP_001352064.1:p.Tyr404Cys
NR_027400.2:n.1356A>G
NR_134502.1:n.875A>G
XM_011520304.2:c.1211A>G	XP_011518606.1:p.Tyr404Cys
XR_001747940.2:n.1508A>G
XR_002957158.1:n.1710A>G
NM_000543.5:c.1343A>G MANE Select	NP_000534.3:p.Tyr448Cys
NM_001007593.3:c.1340A>G	NP_001007594.2:p.Tyr447Cys
NM_001318087.2:c.1343A>G	NP_001305016.1:p.Tyr448Cys
NM_001318088.2:c.422A>G	NP_001305017.1:p.Tyr141Cys
NM_001365135.2:c.1211A>G	NP_001352064.1:p.Tyr404Cys
NR_027400.3:n.1296A>G
NR_134502.2:n.815A>G