Canonical Allele Identifier: CA472910190

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415477G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394247G>C , CM000673.2:g.6394247G>C	GRCh38
NC_000011.9:g.6415477G>C , CM000673.1:g.6415477G>C	GRCh37
NC_000011.8:g.6372053G>C	NCBI36
NG_011780.1:g.8823G>C
NG_029615.1:g.30168C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1536G>C MANE Select	ENSP00000340409.4:p.Val512=
ENST00000342245.8:c.1536G>C	ENSP00000340409.4:p.Val512=
ENST00000526280.1:c.593G>C
ENST00000527275.5:c.1533G>C	ENSP00000435350.1:p.Val511=
ENST00000531303.5:c.*387G>C	ENSP00000432625.1:n.*387G>C
ENST00000531336.1:n.524G>C
ENST00000533123.5:c.*263G>C	ENSP00000435950.1:n.*263G>C
ENST00000534405.5:c.*367G>C	ENSP00000434353.1:n.*367G>C
NM_000543.4:c.1536G>C	NP_000534.3:p.Val512=
NM_001007593.2:c.1533G>C	NP_001007594.2:p.Val511=
XM_005253075.3:c.*29G>C	XP_005253132.1:n.*29G>C
XM_011520303.1:c.1404G>C	XP_011518605.1:p.Val468=
XM_011520304.1:c.*29G>C	XP_011518606.1:n.*29G>C
NM_001318087.1:c.*29G>C	NP_001305016.1:n.*29G>C
NM_001318088.1:c.615G>C	NP_001305017.1:p.Val205=
NM_001365135.1:c.1404G>C	NP_001352064.1:p.Val468=
NR_027400.2:n.1549G>C
NR_134502.1:n.1088G>C
XM_011520304.2:c.*29G>C	XP_011518606.1:n.*29G>C
XR_001747940.2:n.1721G>C
XR_002957158.1:n.1903G>C
NM_000543.5:c.1536G>C MANE Select	NP_000534.3:p.Val512=
NM_001007593.3:c.1533G>C	NP_001007594.2:p.Val511=
NM_001318087.2:c.*29G>C	NP_001305016.1:n.*29G>C
NM_001318088.2:c.615G>C	NP_001305017.1:p.Val205=
NM_001365135.2:c.1404G>C	NP_001352064.1:p.Val468=
NR_027400.3:n.1489G>C
NR_134502.2:n.1028G>C