Canonical Allele Identifier: CA379376190

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415494C>G (hg19) ; chr11:g.6394264C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1553C>G MANE Select	ENSP00000340409.4:p.Thr518Ser
ENST00000342245.8:c.1553C>G	ENSP00000340409.4:p.Thr518Ser
ENST00000526280.1:c.610C>G
ENST00000527275.5:c.1550C>G	ENSP00000435350.1:p.Thr517Ser
ENST00000531303.5:c.*404C>G	ENSP00000432625.1:n.*404C>G
ENST00000531336.1:n.541C>G
ENST00000533123.5:c.*280C>G	ENSP00000435950.1:n.*280C>G
ENST00000534405.5:c.*384C>G	ENSP00000434353.1:n.*384C>G
NM_000543.4:c.1553C>G	NP_000534.3:p.Thr518Ser
NM_001007593.2:c.1550C>G	NP_001007594.2:p.Thr517Ser
XM_005253075.3:c.*46C>G	XP_005253132.1:n.*46C>G
XM_011520303.1:c.1421C>G	XP_011518605.1:p.Thr474Ser
XM_011520304.1:c.*46C>G	XP_011518606.1:n.*46C>G
NM_001318087.1:c.*46C>G	NP_001305016.1:n.*46C>G
NM_001318088.1:c.632C>G	NP_001305017.1:p.Thr211Ser
NM_001365135.1:c.1421C>G	NP_001352064.1:p.Thr474Ser
NR_027400.2:n.1566C>G
NR_134502.1:n.1105C>G
XM_011520304.2:c.*46C>G	XP_011518606.1:n.*46C>G
XR_001747940.2:n.1738C>G
XR_002957158.1:n.1920C>G
NM_000543.5:c.1553C>G MANE Select	NP_000534.3:p.Thr518Ser
NM_001007593.3:c.1550C>G	NP_001007594.2:p.Thr517Ser
NM_001318087.2:c.*46C>G	NP_001305016.1:n.*46C>G
NM_001318088.2:c.632C>G	NP_001305017.1:p.Thr211Ser
NM_001365135.2:c.1421C>G	NP_001352064.1:p.Thr474Ser
NR_027400.3:n.1506C>G
NR_134502.2:n.1045C>G