Canonical Allele Identifier: CA379373745

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6414582G>T (hg19) ; chr11:g.6393352G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393352G>T , CM000673.2:g.6393352G>T	GRCh38
NC_000011.9:g.6414582G>T , CM000673.1:g.6414582G>T	GRCh37
NC_000011.8:g.6371158G>T	NCBI36
NG_011780.1:g.7928G>T
NG_029615.1:g.31063C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1228G>T MANE Select	ENSP00000340409.4:p.Gly410Trp
ENST00000342245.8:c.1228G>T	ENSP00000340409.4:p.Gly410Trp
ENST00000526280.1:c.321-265G>T
ENST00000527275.5:c.1225G>T	ENSP00000435350.1:p.Gly409Trp
ENST00000531303.5:c.*59G>T	ENSP00000432625.1:n.*59G>T
ENST00000531336.1:n.60G>T
ENST00000533123.5:c.1092-265G>T	ENSP00000435950.1:n.1092-265G>T
ENST00000534405.5:c.*59G>T	ENSP00000434353.1:n.*59G>T
NM_000543.4:c.1228G>T	NP_000534.3:p.Gly410Trp
NM_001007593.2:c.1225G>T	NP_001007594.2:p.Gly409Trp
XM_005253075.3:c.1228G>T	XP_005253132.1:p.Gly410Trp
XM_011520303.1:c.1132-265G>T	XP_011518605.1:n.1132-265G>T
XM_011520304.1:c.1132-265G>T	XP_011518606.1:n.1132-265G>T
XR_930886.1:n.1566G>T
NM_001318087.1:c.1228G>T	NP_001305016.1:p.Gly410Trp
NM_001318088.1:c.307G>T	NP_001305017.1:p.Gly103Trp
NM_001365135.1:c.1132-265G>T	NP_001352064.1:n.1132-265G>T
NR_027400.2:n.1277-265G>T
NR_134502.1:n.760G>T
XM_011520304.2:c.1132-265G>T	XP_011518606.1:n.1132-265G>T
XR_001747940.2:n.1393G>T
XR_002957158.1:n.1393G>T
NM_000543.5:c.1228G>T MANE Select	NP_000534.3:p.Gly410Trp
NM_001007593.3:c.1225G>T	NP_001007594.2:p.Gly409Trp
NM_001318087.2:c.1228G>T	NP_001305016.1:p.Gly410Trp
NM_001318088.2:c.307G>T	NP_001305017.1:p.Gly103Trp
NM_001365135.2:c.1132-265G>T	NP_001352064.1:n.1132-265G>T
NR_027400.3:n.1217-265G>T
NR_134502.2:n.700G>T