Canonical Allele Identifier: CA379374415

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6414891C>G (hg19) ; chr11:g.6393661C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393661C>G , CM000673.2:g.6393661C>G	GRCh38
NC_000011.9:g.6414891C>G , CM000673.1:g.6414891C>G	GRCh37
NC_000011.8:g.6371467C>G	NCBI36
NG_011780.1:g.8237C>G
NG_029615.1:g.30754G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1308C>G MANE Select	ENSP00000340409.4:p.Ser436Arg
ENST00000342245.8:c.1308C>G	ENSP00000340409.4:p.Ser436Arg
ENST00000526280.1:c.365C>G
ENST00000527275.5:c.1305C>G	ENSP00000435350.1:p.Ser435Arg
ENST00000531303.5:c.*139C>G	ENSP00000432625.1:n.*139C>G
ENST00000531336.1:n.140C>G
ENST00000532367.1:n.144C>G
ENST00000533123.5:c.*35C>G	ENSP00000435950.1:n.*35C>G
ENST00000534405.5:c.*139C>G	ENSP00000434353.1:n.*139C>G
NM_000543.4:c.1308C>G	NP_000534.3:p.Ser436Arg
NM_001007593.2:c.1305C>G	NP_001007594.2:p.Ser435Arg
XM_005253075.3:c.1308C>G	XP_005253132.1:p.Ser436Arg
XM_011520303.1:c.1176C>G	XP_011518605.1:p.Ser392Arg
XM_011520304.1:c.1176C>G	XP_011518606.1:p.Ser392Arg
XR_930886.1:n.1646C>G
NM_001318087.1:c.1308C>G	NP_001305016.1:p.Ser436Arg
NM_001318088.1:c.387C>G	NP_001305017.1:p.Ser129Arg
NM_001365135.1:c.1176C>G	NP_001352064.1:p.Ser392Arg
NR_027400.2:n.1321C>G
NR_134502.1:n.840C>G
XM_011520304.2:c.1176C>G	XP_011518606.1:p.Ser392Arg
XR_001747940.2:n.1473C>G
XR_002957158.1:n.1473C>G
NM_000543.5:c.1308C>G MANE Select	NP_000534.3:p.Ser436Arg
NM_001007593.3:c.1305C>G	NP_001007594.2:p.Ser435Arg
NM_001318087.2:c.1308C>G	NP_001305016.1:p.Ser436Arg
NM_001318088.2:c.387C>G	NP_001305017.1:p.Ser129Arg
NM_001365135.2:c.1176C>G	NP_001352064.1:p.Ser392Arg
NR_027400.3:n.1261C>G
NR_134502.2:n.780C>G