Canonical Allele Identifier: CA472910181

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415471T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394241T>A , CM000673.2:g.6394241T>A	GRCh38
NC_000011.9:g.6415471T>A , CM000673.1:g.6415471T>A	GRCh37
NC_000011.8:g.6372047T>A	NCBI36
NG_011780.1:g.8817T>A
NG_029615.1:g.30174A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1530T>A MANE Select	ENSP00000340409.4:p.Ser510=
ENST00000342245.8:c.1530T>A	ENSP00000340409.4:p.Ser510=
ENST00000526280.1:c.587T>A
ENST00000527275.5:c.1527T>A	ENSP00000435350.1:p.Ser509=
ENST00000531303.5:c.*381T>A	ENSP00000432625.1:n.*381T>A
ENST00000531336.1:n.518T>A
ENST00000533123.5:c.*257T>A	ENSP00000435950.1:n.*257T>A
ENST00000534405.5:c.*361T>A	ENSP00000434353.1:n.*361T>A
NM_000543.4:c.1530T>A	NP_000534.3:p.Ser510=
NM_001007593.2:c.1527T>A	NP_001007594.2:p.Ser509=
XM_005253075.3:c.*23T>A	XP_005253132.1:n.*23T>A
XM_011520303.1:c.1398T>A	XP_011518605.1:p.Ser466=
XM_011520304.1:c.*23T>A	XP_011518606.1:n.*23T>A
NM_001318087.1:c.*23T>A	NP_001305016.1:n.*23T>A
NM_001318088.1:c.609T>A	NP_001305017.1:p.Ser203=
NM_001365135.1:c.1398T>A	NP_001352064.1:p.Ser466=
NR_027400.2:n.1543T>A
NR_134502.1:n.1082T>A
XM_011520304.2:c.*23T>A	XP_011518606.1:n.*23T>A
XR_001747940.2:n.1715T>A
XR_002957158.1:n.1897T>A
NM_000543.5:c.1530T>A MANE Select	NP_000534.3:p.Ser510=
NM_001007593.3:c.1527T>A	NP_001007594.2:p.Ser509=
NM_001318087.2:c.*23T>A	NP_001305016.1:n.*23T>A
NM_001318088.2:c.609T>A	NP_001305017.1:p.Ser203=
NM_001365135.2:c.1398T>A	NP_001352064.1:p.Ser466=
NR_027400.3:n.1483T>A
NR_134502.2:n.1022T>A