Canonical Allele Identifier: CA379371349

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6413245C>G (hg19) ; chr11:g.6392015C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392015C>G , CM000673.2:g.6392015C>G	GRCh38
NC_000011.9:g.6413245C>G , CM000673.1:g.6413245C>G	GRCh37
NC_000011.8:g.6369821C>G	NCBI36
NG_011780.1:g.6591C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.950C>G MANE Select	ENSP00000340409.4:p.Ala317Gly
ENST00000342245.8:c.950C>G	ENSP00000340409.4:p.Ala317Gly
ENST00000526280.1:c.139C>G
ENST00000527275.5:c.947C>G	ENSP00000435350.1:p.Ala316Gly
ENST00000530395.1:c.131C>G	ENSP00000431479.1:p.Ala44Gly
ENST00000531303.5:c.438+512C>G	ENSP00000432625.1:n.438+512C>G
ENST00000533123.5:c.950C>G	ENSP00000435950.1:p.Ala317Gly
ENST00000533196.1:n.384C>G
ENST00000534405.5:c.950C>G	ENSP00000434353.1:p.Ala317Gly
NM_000543.4:c.950C>G	NP_000534.3:p.Ala317Gly
NM_001007593.2:c.947C>G	NP_001007594.2:p.Ala316Gly
XM_005253075.3:c.950C>G	XP_005253132.1:p.Ala317Gly
XM_011520303.1:c.950C>G	XP_011518605.1:p.Ala317Gly
XM_011520304.1:c.950C>G	XP_011518606.1:p.Ala317Gly
XR_930886.1:n.1248C>G
NM_001318087.1:c.950C>G	NP_001305016.1:p.Ala317Gly
NM_001318088.1:c.-12C>G	NP_001305017.1:n.-12C>G
NM_001365135.1:c.950C>G	NP_001352064.1:p.Ala317Gly
NR_027400.2:n.1135C>G
NR_134502.1:n.623+512C>G
XM_011520304.2:c.950C>G	XP_011518606.1:p.Ala317Gly
XR_001747940.2:n.1075C>G
XR_002957158.1:n.1075C>G
NM_000543.5:c.950C>G MANE Select	NP_000534.3:p.Ala317Gly
NM_001007593.3:c.947C>G	NP_001007594.2:p.Ala316Gly
NM_001318087.2:c.950C>G	NP_001305016.1:p.Ala317Gly
NM_001318088.2:c.-12C>G	NP_001305017.1:n.-12C>G
NM_001365135.2:c.950C>G	NP_001352064.1:p.Ala317Gly
NR_027400.3:n.1075C>G
NR_134502.2:n.563+512C>G