Canonical Allele Identifier: CA217302288

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 597454
• ClinVar RCV Id: RCV000733579
• dbSNP Id: rs374018137
• gnomAD v4: 11-6393900-G-C
• MyVariant Identifiers: chr11:g.6415130G>C (hg19) ; chr11:g.6393900G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393900G>C , CM000673.2:g.6393900G>C	GRCh38
NC_000011.9:g.6415130G>C , CM000673.1:g.6415130G>C	GRCh37
NC_000011.8:g.6371706G>C	NCBI36
NG_011780.1:g.8476G>C
NG_029615.1:g.30515C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1345G>C MANE Select	ENSP00000340409.4:p.Glu449Gln
ENST00000342245.8:c.1345G>C	ENSP00000340409.4:p.Glu449Gln
ENST00000526280.1:c.402G>C
ENST00000527275.5:c.1342G>C	ENSP00000435350.1:p.Glu448Gln
ENST00000531303.5:c.*176G>C	ENSP00000432625.1:n.*176G>C
ENST00000531336.1:n.177G>C
ENST00000532367.1:n.181G>C
ENST00000533123.5:c.*72G>C	ENSP00000435950.1:n.*72G>C
ENST00000534405.5:c.*176G>C	ENSP00000434353.1:n.*176G>C
NM_000543.4:c.1345G>C	NP_000534.3:p.Glu449Gln
NM_001007593.2:c.1342G>C	NP_001007594.2:p.Glu448Gln
XM_005253075.3:c.1345G>C	XP_005253132.1:p.Glu449Gln
XM_011520303.1:c.1213G>C	XP_011518605.1:p.Glu405Gln
XM_011520304.1:c.1213G>C	XP_011518606.1:p.Glu405Gln
XR_930886.1:n.1683G>C
NM_001318087.1:c.1345G>C	NP_001305016.1:p.Glu449Gln
NM_001318088.1:c.424G>C	NP_001305017.1:p.Glu142Gln
NM_001365135.1:c.1213G>C	NP_001352064.1:p.Glu405Gln
NR_027400.2:n.1358G>C
NR_134502.1:n.877G>C
XM_011520304.2:c.1213G>C	XP_011518606.1:p.Glu405Gln
XR_001747940.2:n.1510G>C
XR_002957158.1:n.1712G>C
NM_000543.5:c.1345G>C MANE Select	NP_000534.3:p.Glu449Gln
NM_001007593.3:c.1342G>C	NP_001007594.2:p.Glu448Gln
NM_001318087.2:c.1345G>C	NP_001305016.1:p.Glu449Gln
NM_001318088.2:c.424G>C	NP_001305017.1:p.Glu142Gln
NM_001365135.2:c.1213G>C	NP_001352064.1:p.Glu405Gln
NR_027400.3:n.1298G>C
NR_134502.2:n.817G>C