Canonical Allele Identifier: CA379374380

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6414886A>G (hg19) ; chr11:g.6393656A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393656A>G , CM000673.2:g.6393656A>G	GRCh38
NC_000011.9:g.6414886A>G , CM000673.1:g.6414886A>G	GRCh37
NC_000011.8:g.6371462A>G	NCBI36
NG_011780.1:g.8232A>G
NG_029615.1:g.30759T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1303A>G MANE Select	ENSP00000340409.4:p.Lys435Glu
ENST00000342245.8:c.1303A>G	ENSP00000340409.4:p.Lys435Glu
ENST00000526280.1:c.360A>G
ENST00000527275.5:c.1300A>G	ENSP00000435350.1:p.Lys434Glu
ENST00000531303.5:c.*134A>G	ENSP00000432625.1:n.*134A>G
ENST00000531336.1:n.135A>G
ENST00000532367.1:n.139A>G
ENST00000533123.5:c.*30A>G	ENSP00000435950.1:n.*30A>G
ENST00000534405.5:c.*134A>G	ENSP00000434353.1:n.*134A>G
NM_000543.4:c.1303A>G	NP_000534.3:p.Lys435Glu
NM_001007593.2:c.1300A>G	NP_001007594.2:p.Lys434Glu
XM_005253075.3:c.1303A>G	XP_005253132.1:p.Lys435Glu
XM_011520303.1:c.1171A>G	XP_011518605.1:p.Lys391Glu
XM_011520304.1:c.1171A>G	XP_011518606.1:p.Lys391Glu
XR_930886.1:n.1641A>G
NM_001318087.1:c.1303A>G	NP_001305016.1:p.Lys435Glu
NM_001318088.1:c.382A>G	NP_001305017.1:p.Lys128Glu
NM_001365135.1:c.1171A>G	NP_001352064.1:p.Lys391Glu
NR_027400.2:n.1316A>G
NR_134502.1:n.835A>G
XM_011520304.2:c.1171A>G	XP_011518606.1:p.Lys391Glu
XR_001747940.2:n.1468A>G
XR_002957158.1:n.1468A>G
NM_000543.5:c.1303A>G MANE Select	NP_000534.3:p.Lys435Glu
NM_001007593.3:c.1300A>G	NP_001007594.2:p.Lys434Glu
NM_001318087.2:c.1303A>G	NP_001305016.1:p.Lys435Glu
NM_001318088.2:c.382A>G	NP_001305017.1:p.Lys128Glu
NM_001365135.2:c.1171A>G	NP_001352064.1:p.Lys391Glu
NR_027400.3:n.1256A>G
NR_134502.2:n.775A>G