Canonical Allele Identifier: CA379373098

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6414511T>G (hg19) ; chr11:g.6393281T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393281T>G , CM000673.2:g.6393281T>G	GRCh38
NC_000011.9:g.6414511T>G , CM000673.1:g.6414511T>G	GRCh37
NC_000011.8:g.6371087T>G	NCBI36
NG_011780.1:g.7857T>G
NG_029615.1:g.31134A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1157T>G MANE Select	ENSP00000340409.4:p.Phe386Cys
ENST00000342245.8:c.1157T>G	ENSP00000340409.4:p.Phe386Cys
ENST00000526280.1:c.321-336T>G
ENST00000527275.5:c.1154T>G	ENSP00000435350.1:p.Phe385Cys
ENST00000531303.5:c.504T>G	ENSP00000432625.1:p.Phe168Leu
ENST00000533123.5:c.1092-336T>G	ENSP00000435950.1:n.1092-336T>G
ENST00000534405.5:c.1197T>G	ENSP00000434353.1:p.Phe399Leu
NM_000543.4:c.1157T>G	NP_000534.3:p.Phe386Cys
NM_001007593.2:c.1154T>G	NP_001007594.2:p.Phe385Cys
XM_005253075.3:c.1157T>G	XP_005253132.1:p.Phe386Cys
XM_011520303.1:c.1132-336T>G	XP_011518605.1:n.1132-336T>G
XM_011520304.1:c.1132-336T>G	XP_011518606.1:n.1132-336T>G
XR_930886.1:n.1495T>G
NM_001318087.1:c.1157T>G	NP_001305016.1:p.Phe386Cys
NM_001318088.1:c.236T>G	NP_001305017.1:p.Phe79Cys
NM_001365135.1:c.1132-336T>G	NP_001352064.1:n.1132-336T>G
NR_027400.2:n.1277-336T>G
NR_134502.1:n.689T>G
XM_011520304.2:c.1132-336T>G	XP_011518606.1:n.1132-336T>G
XR_001747940.2:n.1322T>G
XR_002957158.1:n.1322T>G
NM_000543.5:c.1157T>G MANE Select	NP_000534.3:p.Phe386Cys
NM_001007593.3:c.1154T>G	NP_001007594.2:p.Phe385Cys
NM_001318087.2:c.1157T>G	NP_001305016.1:p.Phe386Cys
NM_001318088.2:c.236T>G	NP_001305017.1:p.Phe79Cys
NM_001365135.2:c.1132-336T>G	NP_001352064.1:n.1132-336T>G
NR_027400.3:n.1217-336T>G
NR_134502.2:n.629T>G