Canonical Allele Identifier: CA472910008

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415246A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394016A>C , CM000673.2:g.6394016A>C	GRCh38
NC_000011.9:g.6415246A>C , CM000673.1:g.6415246A>C	GRCh37
NC_000011.8:g.6371822A>C	NCBI36
NG_011780.1:g.8592A>C
NG_029615.1:g.30399T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1461A>C MANE Select	ENSP00000340409.4:p.Ala487=
ENST00000342245.8:c.1461A>C	ENSP00000340409.4:p.Ala487=
ENST00000526280.1:c.518A>C
ENST00000527275.5:c.1458A>C	ENSP00000435350.1:p.Ala486=
ENST00000531303.5:c.*292A>C	ENSP00000432625.1:n.*292A>C
ENST00000531336.1:n.293A>C
ENST00000532367.1:n.297A>C
ENST00000533123.5:c.*188A>C	ENSP00000435950.1:n.*188A>C
ENST00000534405.5:c.*292A>C	ENSP00000434353.1:n.*292A>C
NM_000543.4:c.1461A>C	NP_000534.3:p.Ala487=
NM_001007593.2:c.1458A>C	NP_001007594.2:p.Ala486=
XM_005253075.3:c.1461A>C	XP_005253132.1:p.Ala487=
XM_011520303.1:c.1329A>C	XP_011518605.1:p.Ala443=
XM_011520304.1:c.1329A>C	XP_011518606.1:p.Ala443=
XR_930886.1:n.1799A>C
NM_001318087.1:c.1461A>C	NP_001305016.1:p.Ala487=
NM_001318088.1:c.540A>C	NP_001305017.1:p.Ala180=
NM_001365135.1:c.1329A>C	NP_001352064.1:p.Ala443=
NR_027400.2:n.1474A>C
NR_134502.1:n.993A>C
XM_011520304.2:c.1329A>C	XP_011518606.1:p.Ala443=
XR_001747940.2:n.1626A>C
XR_002957158.1:n.1828A>C
NM_000543.5:c.1461A>C MANE Select	NP_000534.3:p.Ala487=
NM_001007593.3:c.1458A>C	NP_001007594.2:p.Ala486=
NM_001318087.2:c.1461A>C	NP_001305016.1:p.Ala487=
NM_001318088.2:c.540A>C	NP_001305017.1:p.Ala180=
NM_001365135.2:c.1329A>C	NP_001352064.1:p.Ala443=
NR_027400.3:n.1414A>C
NR_134502.2:n.933A>C