Canonical Allele Identifier: CA379376340

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415517G>A (hg19) ; chr11:g.6394287G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394287G>A , CM000673.2:g.6394287G>A	GRCh38
NC_000011.9:g.6415517G>A , CM000673.1:g.6415517G>A	GRCh37
NC_000011.8:g.6372093G>A	NCBI36
NG_011780.1:g.8863G>A
NG_029615.1:g.30128C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1576G>A MANE Select	ENSP00000340409.4:p.Ala526Thr
ENST00000342245.8:c.1576G>A	ENSP00000340409.4:p.Ala526Thr
ENST00000526280.1:c.633G>A
ENST00000527275.5:c.1573G>A	ENSP00000435350.1:p.Ala525Thr
ENST00000531303.5:c.*427G>A	ENSP00000432625.1:n.*427G>A
ENST00000531336.1:n.564G>A
ENST00000533123.5:c.*303G>A	ENSP00000435950.1:n.*303G>A
ENST00000534405.5:c.*407G>A	ENSP00000434353.1:n.*407G>A
NM_000543.4:c.1576G>A	NP_000534.3:p.Ala526Thr
NM_001007593.2:c.1573G>A	NP_001007594.2:p.Ala525Thr
XM_005253075.3:c.*69G>A	XP_005253132.1:n.*69G>A
XM_011520303.1:c.1444G>A	XP_011518605.1:p.Ala482Thr
XM_011520304.1:c.*69G>A	XP_011518606.1:n.*69G>A
NM_001318087.1:c.*69G>A	NP_001305016.1:n.*69G>A
NM_001318088.1:c.655G>A	NP_001305017.1:p.Ala219Thr
NM_001365135.1:c.1444G>A	NP_001352064.1:p.Ala482Thr
NR_027400.2:n.1589G>A
NR_134502.1:n.1128G>A
XM_011520304.2:c.*69G>A	XP_011518606.1:n.*69G>A
XR_001747940.2:n.1761G>A
XR_002957158.1:n.1943G>A
NM_000543.5:c.1576G>A MANE Select	NP_000534.3:p.Ala526Thr
NM_001007593.3:c.1573G>A	NP_001007594.2:p.Ala525Thr
NM_001318087.2:c.*69G>A	NP_001305016.1:n.*69G>A
NM_001318088.2:c.655G>A	NP_001305017.1:p.Ala219Thr
NM_001365135.2:c.1444G>A	NP_001352064.1:p.Ala482Thr
NR_027400.3:n.1529G>A
NR_134502.2:n.1068G>A