Canonical Allele Identifier: CA472910133

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415444A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394214A>G , CM000673.2:g.6394214A>G	GRCh38
NC_000011.9:g.6415444A>G , CM000673.1:g.6415444A>G	GRCh37
NC_000011.8:g.6372020A>G	NCBI36
NG_011780.1:g.8790A>G
NG_029615.1:g.30201T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1503A>G MANE Select	ENSP00000340409.4:p.Gln501=
ENST00000342245.8:c.1503A>G	ENSP00000340409.4:p.Gln501=
ENST00000526280.1:c.560A>G
ENST00000527275.5:c.1500A>G	ENSP00000435350.1:p.Gln500=
ENST00000531303.5:c.*354A>G	ENSP00000432625.1:n.*354A>G
ENST00000531336.1:n.491A>G
ENST00000533123.5:c.*230A>G	ENSP00000435950.1:n.*230A>G
ENST00000534405.5:c.*334A>G	ENSP00000434353.1:n.*334A>G
NM_000543.4:c.1503A>G	NP_000534.3:p.Gln501=
NM_001007593.2:c.1500A>G	NP_001007594.2:p.Gln500=
XM_005253075.3:c.1523A>G	XP_005253132.1:p.Lys508Arg
XM_011520303.1:c.1371A>G	XP_011518605.1:p.Gln457=
XM_011520304.1:c.1391A>G	XP_011518606.1:p.Lys464Arg
NM_001318087.1:c.1523A>G	NP_001305016.1:p.Lys508Arg
NM_001318088.1:c.582A>G	NP_001305017.1:p.Gln194=
NM_001365135.1:c.1371A>G	NP_001352064.1:p.Gln457=
NR_027400.2:n.1516A>G
NR_134502.1:n.1055A>G
XM_011520304.2:c.1391A>G	XP_011518606.1:p.Lys464Arg
XR_001747940.2:n.1688A>G
XR_002957158.1:n.1870A>G
NM_000543.5:c.1503A>G MANE Select	NP_000534.3:p.Gln501=
NM_001007593.3:c.1500A>G	NP_001007594.2:p.Gln500=
NM_001318087.2:c.1523A>G	NP_001305016.1:p.Lys508Arg
NM_001318088.2:c.582A>G	NP_001305017.1:p.Gln194=
NM_001365135.2:c.1371A>G	NP_001352064.1:p.Gln457=
NR_027400.3:n.1456A>G
NR_134502.2:n.995A>G