Canonical Allele Identifier: CA379371860

Gene: SMPD1

Linked Data

• COSMIC: COSM930100 ; COSM930101
• MyVariant Identifiers: chr11:g.6413365C>A (hg19) ; chr11:g.6392135C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392135C>A , CM000673.2:g.6392135C>A	GRCh38
NC_000011.9:g.6413365C>A , CM000673.1:g.6413365C>A	GRCh37
NC_000011.8:g.6369941C>A	NCBI36
NG_011780.1:g.6711C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1070C>A MANE Select	ENSP00000340409.4:p.Ala357Asp
ENST00000342245.8:c.1070C>A	ENSP00000340409.4:p.Ala357Asp
ENST00000526280.1:c.259C>A
ENST00000527275.5:c.1067C>A	ENSP00000435350.1:p.Ala356Asp
ENST00000531303.5:c.438+632C>A	ENSP00000432625.1:n.438+632C>A
ENST00000533123.5:c.1070C>A	ENSP00000435950.1:p.Ala357Asp
ENST00000534405.5:c.1070C>A	ENSP00000434353.1:p.Ala357Asp
NM_000543.4:c.1070C>A	NP_000534.3:p.Ala357Asp
NM_001007593.2:c.1067C>A	NP_001007594.2:p.Ala356Asp
XM_005253075.3:c.1070C>A	XP_005253132.1:p.Ala357Asp
XM_011520303.1:c.1070C>A	XP_011518605.1:p.Ala357Asp
XM_011520304.1:c.1070C>A	XP_011518606.1:p.Ala357Asp
XR_930886.1:n.1368C>A
NM_001318087.1:c.1070C>A	NP_001305016.1:p.Ala357Asp
NM_001318088.1:c.109C>A	NP_001305017.1:p.Pro37Thr
NM_001365135.1:c.1070C>A	NP_001352064.1:p.Ala357Asp
NR_027400.2:n.1255C>A
NR_134502.1:n.623+632C>A
XM_011520304.2:c.1070C>A	XP_011518606.1:p.Ala357Asp
XR_001747940.2:n.1195C>A
XR_002957158.1:n.1195C>A
NM_000543.5:c.1070C>A MANE Select	NP_000534.3:p.Ala357Asp
NM_001007593.3:c.1067C>A	NP_001007594.2:p.Ala356Asp
NM_001318087.2:c.1070C>A	NP_001305016.1:p.Ala357Asp
NM_001318088.2:c.109C>A	NP_001305017.1:p.Pro37Thr
NM_001365135.2:c.1070C>A	NP_001352064.1:p.Ala357Asp
NR_027400.3:n.1195C>A
NR_134502.2:n.563+632C>A