Canonical Allele Identifier: CA472910060

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415582G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394352G>C , CM000673.2:g.6394352G>C	GRCh38
NC_000011.9:g.6415582G>C , CM000673.1:g.6415582G>C	GRCh37
NC_000011.8:g.6372158G>C	NCBI36
NG_011780.1:g.8928G>C
NG_029615.1:g.30063C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1641G>C MANE Select	ENSP00000340409.4:p.Leu547=
ENST00000342245.8:c.1641G>C	ENSP00000340409.4:p.Leu547=
ENST00000526280.1:c.698G>C
ENST00000527275.5:c.1638G>C	ENSP00000435350.1:p.Leu546=
ENST00000531303.5:c.*492G>C	ENSP00000432625.1:n.*492G>C
ENST00000531336.1:n.629G>C
ENST00000533123.5:c.*368G>C	ENSP00000435950.1:n.*368G>C
ENST00000534405.5:c.*472G>C	ENSP00000434353.1:n.*472G>C
NM_000543.4:c.1641G>C	NP_000534.3:p.Leu547=
NM_001007593.2:c.1638G>C	NP_001007594.2:p.Leu546=
XM_005253075.3:c.*134G>C	XP_005253132.1:n.*134G>C
XM_011520303.1:c.1509G>C	XP_011518605.1:p.Leu503=
XM_011520304.1:c.*134G>C	XP_011518606.1:n.*134G>C
NM_001318087.1:c.*134G>C	NP_001305016.1:n.*134G>C
NM_001318088.1:c.720G>C	NP_001305017.1:p.Leu240=
NM_001365135.1:c.1509G>C	NP_001352064.1:p.Leu503=
NR_027400.2:n.1654G>C
NR_134502.1:n.1193G>C
XM_011520304.2:c.*134G>C	XP_011518606.1:n.*134G>C
XR_001747940.2:n.1826G>C
XR_002957158.1:n.2008G>C
NM_000543.5:c.1641G>C MANE Select	NP_000534.3:p.Leu547=
NM_001007593.3:c.1638G>C	NP_001007594.2:p.Leu546=
NM_001318087.2:c.*134G>C	NP_001305016.1:n.*134G>C
NM_001318088.2:c.720G>C	NP_001305017.1:p.Leu240=
NM_001365135.2:c.1509G>C	NP_001352064.1:p.Leu503=
NR_027400.3:n.1594G>C
NR_134502.2:n.1133G>C