Canonical Allele Identifier: CA379373299

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6414534C>T (hg19) ; chr11:g.6393304C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393304C>T , CM000673.2:g.6393304C>T	GRCh38
NC_000011.9:g.6414534C>T , CM000673.1:g.6414534C>T	GRCh37
NC_000011.8:g.6371110C>T	NCBI36
NG_011780.1:g.7880C>T
NG_029615.1:g.31111G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1180C>T MANE Select	ENSP00000340409.4:p.Leu394Phe
ENST00000342245.8:c.1180C>T	ENSP00000340409.4:p.Leu394Phe
ENST00000526280.1:c.321-313C>T
ENST00000527275.5:c.1177C>T	ENSP00000435350.1:p.Leu393Phe
ENST00000531303.5:c.*11C>T	ENSP00000432625.1:n.*11C>T
ENST00000531336.1:n.12C>T
ENST00000533123.5:c.1092-313C>T	ENSP00000435950.1:n.1092-313C>T
ENST00000534405.5:c.*11C>T	ENSP00000434353.1:n.*11C>T
NM_000543.4:c.1180C>T	NP_000534.3:p.Leu394Phe
NM_001007593.2:c.1177C>T	NP_001007594.2:p.Leu393Phe
XM_005253075.3:c.1180C>T	XP_005253132.1:p.Leu394Phe
XM_011520303.1:c.1132-313C>T	XP_011518605.1:n.1132-313C>T
XM_011520304.1:c.1132-313C>T	XP_011518606.1:n.1132-313C>T
XR_930886.1:n.1518C>T
NM_001318087.1:c.1180C>T	NP_001305016.1:p.Leu394Phe
NM_001318088.1:c.259C>T	NP_001305017.1:p.Leu87Phe
NM_001365135.1:c.1132-313C>T	NP_001352064.1:n.1132-313C>T
NR_027400.2:n.1277-313C>T
NR_134502.1:n.712C>T
XM_011520304.2:c.1132-313C>T	XP_011518606.1:n.1132-313C>T
XR_001747940.2:n.1345C>T
XR_002957158.1:n.1345C>T
NM_000543.5:c.1180C>T MANE Select	NP_000534.3:p.Leu394Phe
NM_001007593.3:c.1177C>T	NP_001007594.2:p.Leu393Phe
NM_001318087.2:c.1180C>T	NP_001305016.1:p.Leu394Phe
NM_001318088.2:c.259C>T	NP_001305017.1:p.Leu87Phe
NM_001365135.2:c.1132-313C>T	NP_001352064.1:n.1132-313C>T
NR_027400.3:n.1217-313C>T
NR_134502.2:n.652C>T