Canonical Allele Identifier: CA472910107

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2947399
• ClinVar RCV Id: RCV003801589
• MyVariant Identifiers: chr11:g.6415429T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394199T>C , CM000673.2:g.6394199T>C	GRCh38
NC_000011.9:g.6415429T>C , CM000673.1:g.6415429T>C	GRCh37
NC_000011.8:g.6372005T>C	NCBI36
NG_011780.1:g.8775T>C
NG_029615.1:g.30216A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1488T>C MANE Select	ENSP00000340409.4:p.Gly496=
ENST00000342245.8:c.1488T>C	ENSP00000340409.4:p.Gly496=
ENST00000526280.1:c.545T>C
ENST00000527275.5:c.1485T>C	ENSP00000435350.1:p.Gly495=
ENST00000531303.5:c.*339T>C	ENSP00000432625.1:n.*339T>C
ENST00000531336.1:n.476T>C
ENST00000533123.5:c.*215T>C	ENSP00000435950.1:n.*215T>C
ENST00000534405.5:c.*319T>C	ENSP00000434353.1:n.*319T>C
NM_000543.4:c.1488T>C	NP_000534.3:p.Gly496=
NM_001007593.2:c.1485T>C	NP_001007594.2:p.Gly495=
XM_005253075.3:c.1508T>C	XP_005253132.1:p.Val503Ala
XM_011520303.1:c.1356T>C	XP_011518605.1:p.Gly452=
XM_011520304.1:c.1376T>C	XP_011518606.1:p.Val459Ala
NM_001318087.1:c.1508T>C	NP_001305016.1:p.Val503Ala
NM_001318088.1:c.567T>C	NP_001305017.1:p.Gly189=
NM_001365135.1:c.1356T>C	NP_001352064.1:p.Gly452=
NR_027400.2:n.1501T>C
NR_134502.1:n.1040T>C
XM_011520304.2:c.1376T>C	XP_011518606.1:p.Val459Ala
XR_001747940.2:n.1673T>C
XR_002957158.1:n.1855T>C
NM_000543.5:c.1488T>C MANE Select	NP_000534.3:p.Gly496=
NM_001007593.3:c.1485T>C	NP_001007594.2:p.Gly495=
NM_001318087.2:c.1508T>C	NP_001305016.1:p.Val503Ala
NM_001318088.2:c.567T>C	NP_001305017.1:p.Gly189=
NM_001365135.2:c.1356T>C	NP_001352064.1:p.Gly452=
NR_027400.3:n.1441T>C
NR_134502.2:n.980T>C