Canonical Allele Identifier: CA379373356

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6414541T>G (hg19) ; chr11:g.6393311T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393311T>G , CM000673.2:g.6393311T>G	GRCh38
NC_000011.9:g.6414541T>G , CM000673.1:g.6414541T>G	GRCh37
NC_000011.8:g.6371117T>G	NCBI36
NG_011780.1:g.7887T>G
NG_029615.1:g.31104A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1187T>G MANE Select	ENSP00000340409.4:p.Ile396Ser
ENST00000342245.8:c.1187T>G	ENSP00000340409.4:p.Ile396Ser
ENST00000526280.1:c.321-306T>G
ENST00000527275.5:c.1184T>G	ENSP00000435350.1:p.Ile395Ser
ENST00000531303.5:c.*18T>G	ENSP00000432625.1:n.*18T>G
ENST00000531336.1:n.19T>G
ENST00000533123.5:c.1092-306T>G	ENSP00000435950.1:n.1092-306T>G
ENST00000534405.5:c.*18T>G	ENSP00000434353.1:n.*18T>G
NM_000543.4:c.1187T>G	NP_000534.3:p.Ile396Ser
NM_001007593.2:c.1184T>G	NP_001007594.2:p.Ile395Ser
XM_005253075.3:c.1187T>G	XP_005253132.1:p.Ile396Ser
XM_011520303.1:c.1132-306T>G	XP_011518605.1:n.1132-306T>G
XM_011520304.1:c.1132-306T>G	XP_011518606.1:n.1132-306T>G
XR_930886.1:n.1525T>G
NM_001318087.1:c.1187T>G	NP_001305016.1:p.Ile396Ser
NM_001318088.1:c.266T>G	NP_001305017.1:p.Ile89Ser
NM_001365135.1:c.1132-306T>G	NP_001352064.1:n.1132-306T>G
NR_027400.2:n.1277-306T>G
NR_134502.1:n.719T>G
XM_011520304.2:c.1132-306T>G	XP_011518606.1:n.1132-306T>G
XR_001747940.2:n.1352T>G
XR_002957158.1:n.1352T>G
NM_000543.5:c.1187T>G MANE Select	NP_000534.3:p.Ile396Ser
NM_001007593.3:c.1184T>G	NP_001007594.2:p.Ile395Ser
NM_001318087.2:c.1187T>G	NP_001305016.1:p.Ile396Ser
NM_001318088.2:c.266T>G	NP_001305017.1:p.Ile89Ser
NM_001365135.2:c.1132-306T>G	NP_001352064.1:n.1132-306T>G
NR_027400.3:n.1217-306T>G
NR_134502.2:n.659T>G