Canonical Allele Identifier: CA245953

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 197685
• ClinVar RCV Id: RCV000178790 ; RCV003387789 ; RCV002516782
• dbSNP Id: rs794727705
• gnomAD v4: 11-6393933-A-C
• MyVariant Identifiers: chr11:g.6415163A>C (hg19) ; chr11:g.6393933A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393933A>C , CM000673.2:g.6393933A>C	GRCh38
NC_000011.9:g.6415163A>C , CM000673.1:g.6415163A>C	GRCh37
NC_000011.8:g.6371739A>C	NCBI36
NG_011780.1:g.8509A>C
NG_029615.1:g.30482T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1378A>C MANE Select	ENSP00000340409.4:p.Thr460Pro
ENST00000342245.8:c.1378A>C	ENSP00000340409.4:p.Thr460Pro
ENST00000526280.1:c.435A>C
ENST00000527275.5:c.1375A>C	ENSP00000435350.1:p.Thr459Pro
ENST00000531303.5:c.*209A>C	ENSP00000432625.1:n.*209A>C
ENST00000531336.1:n.210A>C
ENST00000532367.1:n.214A>C
ENST00000533123.5:c.*105A>C	ENSP00000435950.1:n.*105A>C
ENST00000534405.5:c.*209A>C	ENSP00000434353.1:n.*209A>C
NM_000543.4:c.1378A>C	NP_000534.3:p.Thr460Pro
NM_001007593.2:c.1375A>C	NP_001007594.2:p.Thr459Pro
XM_005253075.3:c.1378A>C	XP_005253132.1:p.Thr460Pro
XM_011520303.1:c.1246A>C	XP_011518605.1:p.Thr416Pro
XM_011520304.1:c.1246A>C	XP_011518606.1:p.Thr416Pro
XR_930886.1:n.1716A>C
NM_001318087.1:c.1378A>C	NP_001305016.1:p.Thr460Pro
NM_001318088.1:c.457A>C	NP_001305017.1:p.Thr153Pro
NM_001365135.1:c.1246A>C	NP_001352064.1:p.Thr416Pro
NR_027400.2:n.1391A>C
NR_134502.1:n.910A>C
XM_011520304.2:c.1246A>C	XP_011518606.1:p.Thr416Pro
XR_001747940.2:n.1543A>C
XR_002957158.1:n.1745A>C
NM_000543.5:c.1378A>C MANE Select	NP_000534.3:p.Thr460Pro
NM_001007593.3:c.1375A>C	NP_001007594.2:p.Thr459Pro
NM_001318087.2:c.1378A>C	NP_001305016.1:p.Thr460Pro
NM_001318088.2:c.457A>C	NP_001305017.1:p.Thr153Pro
NM_001365135.2:c.1246A>C	NP_001352064.1:p.Thr416Pro
NR_027400.3:n.1331A>C
NR_134502.2:n.850A>C