Canonical Allele Identifier: CA379376193

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 992711
• ClinVar RCV Id: RCV001281427
• dbSNP Id: rs752679988
• MyVariant Identifiers: chr11:g.6415494C>T (hg19) ; chr11:g.6394264C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394264C>T , CM000673.2:g.6394264C>T	GRCh38
NC_000011.9:g.6415494C>T , CM000673.1:g.6415494C>T	GRCh37
NC_000011.8:g.6372070C>T	NCBI36
NG_011780.1:g.8840C>T
NG_029615.1:g.30151G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1553C>T MANE Select	ENSP00000340409.4:p.Thr518Ile
ENST00000342245.8:c.1553C>T	ENSP00000340409.4:p.Thr518Ile
ENST00000526280.1:c.610C>T
ENST00000527275.5:c.1550C>T	ENSP00000435350.1:p.Thr517Ile
ENST00000531303.5:c.*404C>T	ENSP00000432625.1:n.*404C>T
ENST00000531336.1:n.541C>T
ENST00000533123.5:c.*280C>T	ENSP00000435950.1:n.*280C>T
ENST00000534405.5:c.*384C>T	ENSP00000434353.1:n.*384C>T
NM_000543.4:c.1553C>T	NP_000534.3:p.Thr518Ile
NM_001007593.2:c.1550C>T	NP_001007594.2:p.Thr517Ile
XM_005253075.3:c.*46C>T	XP_005253132.1:n.*46C>T
XM_011520303.1:c.1421C>T	XP_011518605.1:p.Thr474Ile
XM_011520304.1:c.*46C>T	XP_011518606.1:n.*46C>T
NM_001318087.1:c.*46C>T	NP_001305016.1:n.*46C>T
NM_001318088.1:c.632C>T	NP_001305017.1:p.Thr211Ile
NM_001365135.1:c.1421C>T	NP_001352064.1:p.Thr474Ile
NR_027400.2:n.1566C>T
NR_134502.1:n.1105C>T
XM_011520304.2:c.*46C>T	XP_011518606.1:n.*46C>T
XR_001747940.2:n.1738C>T
XR_002957158.1:n.1920C>T
NM_000543.5:c.1553C>T MANE Select	NP_000534.3:p.Thr518Ile
NM_001007593.3:c.1550C>T	NP_001007594.2:p.Thr517Ile
NM_001318087.2:c.*46C>T	NP_001305016.1:n.*46C>T
NM_001318088.2:c.632C>T	NP_001305017.1:p.Thr211Ile
NM_001365135.2:c.1421C>T	NP_001352064.1:p.Thr474Ile
NR_027400.3:n.1506C>T
NR_134502.2:n.1045C>T