Canonical Allele Identifier: CA379373400

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6414546T>G (hg19) ; chr11:g.6393316T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393316T>G , CM000673.2:g.6393316T>G	GRCh38
NC_000011.9:g.6414546T>G , CM000673.1:g.6414546T>G	GRCh37
NC_000011.8:g.6371122T>G	NCBI36
NG_011780.1:g.7892T>G
NG_029615.1:g.31099A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1192T>G MANE Select	ENSP00000340409.4:p.Ser398Ala
ENST00000342245.8:c.1192T>G	ENSP00000340409.4:p.Ser398Ala
ENST00000526280.1:c.321-301T>G
ENST00000527275.5:c.1189T>G	ENSP00000435350.1:p.Ser397Ala
ENST00000531303.5:c.*23T>G	ENSP00000432625.1:n.*23T>G
ENST00000531336.1:n.24T>G
ENST00000533123.5:c.1092-301T>G	ENSP00000435950.1:n.1092-301T>G
ENST00000534405.5:c.*23T>G	ENSP00000434353.1:n.*23T>G
NM_000543.4:c.1192T>G	NP_000534.3:p.Ser398Ala
NM_001007593.2:c.1189T>G	NP_001007594.2:p.Ser397Ala
XM_005253075.3:c.1192T>G	XP_005253132.1:p.Ser398Ala
XM_011520303.1:c.1132-301T>G	XP_011518605.1:n.1132-301T>G
XM_011520304.1:c.1132-301T>G	XP_011518606.1:n.1132-301T>G
XR_930886.1:n.1530T>G
NM_001318087.1:c.1192T>G	NP_001305016.1:p.Ser398Ala
NM_001318088.1:c.271T>G	NP_001305017.1:p.Ser91Ala
NM_001365135.1:c.1132-301T>G	NP_001352064.1:n.1132-301T>G
NR_027400.2:n.1277-301T>G
NR_134502.1:n.724T>G
XM_011520304.2:c.1132-301T>G	XP_011518606.1:n.1132-301T>G
XR_001747940.2:n.1357T>G
XR_002957158.1:n.1357T>G
NM_000543.5:c.1192T>G MANE Select	NP_000534.3:p.Ser398Ala
NM_001007593.3:c.1189T>G	NP_001007594.2:p.Ser397Ala
NM_001318087.2:c.1192T>G	NP_001305016.1:p.Ser398Ala
NM_001318088.2:c.271T>G	NP_001305017.1:p.Ser91Ala
NM_001365135.2:c.1132-301T>G	NP_001352064.1:n.1132-301T>G
NR_027400.3:n.1217-301T>G
NR_134502.2:n.664T>G