Canonical Allele Identifier: CA472910425

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415763C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394533C>T , CM000673.2:g.6394533C>T	GRCh38
NC_000011.9:g.6415763C>T , CM000673.1:g.6415763C>T	GRCh37
NC_000011.8:g.6372339C>T	NCBI36
NG_011780.1:g.9109C>T
NG_029615.1:g.29882G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1822C>T MANE Select	ENSP00000340409.4:p.Leu608=
ENST00000342245.8:c.1822C>T	ENSP00000340409.4:p.Leu608=
ENST00000526280.1:c.879C>T
ENST00000527275.5:c.1819C>T	ENSP00000435350.1:p.Leu607=
ENST00000531303.5:c.*673C>T	ENSP00000432625.1:n.*673C>T
ENST00000533123.5:c.*549C>T	ENSP00000435950.1:n.*549C>T
ENST00000534405.5:c.*653C>T	ENSP00000434353.1:n.*653C>T
NM_000543.4:c.1822C>T	NP_000534.3:p.Leu608=
NM_001007593.2:c.1819C>T	NP_001007594.2:p.Leu607=
XM_005253075.3:c.*315C>T	XP_005253132.1:n.*315C>T
XM_011520303.1:c.1690C>T	XP_011518605.1:p.Leu564=
XM_011520304.1:c.*315C>T	XP_011518606.1:n.*315C>T
NM_001318087.1:c.*315C>T	NP_001305016.1:n.*315C>T
NM_001318088.1:c.901C>T	NP_001305017.1:p.Leu301=
NM_001365135.1:c.1690C>T	NP_001352064.1:p.Leu564=
NR_027400.2:n.1835C>T
NR_134502.1:n.1374C>T
XM_011520304.2:c.*315C>T	XP_011518606.1:n.*315C>T
XR_001747940.2:n.2007C>T
XR_002957158.1:n.2189C>T
NM_000543.5:c.1822C>T MANE Select	NP_000534.3:p.Leu608=
NM_001007593.3:c.1819C>T	NP_001007594.2:p.Leu607=
NM_001318087.2:c.*315C>T	NP_001305016.1:n.*315C>T
NM_001318088.2:c.901C>T	NP_001305017.1:p.Leu301=
NM_001365135.2:c.1690C>T	NP_001352064.1:p.Leu564=
NR_027400.3:n.1775C>T
NR_134502.2:n.1314C>T