Canonical Allele Identifier: CA379371260

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1488811
• ClinVar RCV Id: RCV002001334
• dbSNP Id: rs2134012389
• MyVariant Identifiers: chr11:g.6413205C>G (hg19) ; chr11:g.6391975C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6391975C>G , CM000673.2:g.6391975C>G	GRCh38
NC_000011.9:g.6413205C>G , CM000673.1:g.6413205C>G	GRCh37
NC_000011.8:g.6369781C>G	NCBI36
NG_011780.1:g.6551C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.910C>G MANE Select	ENSP00000340409.4:p.Leu304Val
ENST00000342245.8:c.910C>G	ENSP00000340409.4:p.Leu304Val
ENST00000526280.1:c.99C>G
ENST00000527275.5:c.907C>G	ENSP00000435350.1:p.Leu303Val
ENST00000530395.1:c.91C>G	ENSP00000431479.1:p.Leu31Val
ENST00000531303.5:c.438+472C>G	ENSP00000432625.1:n.438+472C>G
ENST00000533123.5:c.910C>G	ENSP00000435950.1:p.Leu304Val
ENST00000533196.1:n.375-31C>G
ENST00000534405.5:c.910C>G	ENSP00000434353.1:p.Leu304Val
NM_000543.4:c.910C>G	NP_000534.3:p.Leu304Val
NM_001007593.2:c.907C>G	NP_001007594.2:p.Leu303Val
XM_005253075.3:c.910C>G	XP_005253132.1:p.Leu304Val
XM_011520303.1:c.910C>G	XP_011518605.1:p.Leu304Val
XM_011520304.1:c.910C>G	XP_011518606.1:p.Leu304Val
XR_930886.1:n.1208C>G
NM_001318087.1:c.910C>G	NP_001305016.1:p.Leu304Val
NM_001318088.1:c.-52C>G	NP_001305017.1:n.-52C>G
NM_001365135.1:c.910C>G	NP_001352064.1:p.Leu304Val
NR_027400.2:n.1095C>G
NR_134502.1:n.623+472C>G
XM_011520304.2:c.910C>G	XP_011518606.1:p.Leu304Val
XR_001747940.2:n.1035C>G
XR_002957158.1:n.1035C>G
NM_000543.5:c.910C>G MANE Select	NP_000534.3:p.Leu304Val
NM_001007593.3:c.907C>G	NP_001007594.2:p.Leu303Val
NM_001318087.2:c.910C>G	NP_001305016.1:p.Leu304Val
NM_001318088.2:c.-52C>G	NP_001305017.1:n.-52C>G
NM_001365135.2:c.910C>G	NP_001352064.1:p.Leu304Val
NR_027400.3:n.1035C>G
NR_134502.2:n.563+472C>G