Canonical Allele Identifier: CA5852850

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 813420
• ClinVar RCV Id: RCV001004366
• dbSNP Id: rs779528546
• ExAC: 11:6414880 T / C
• gnomAD v2: 11-6414880-T-C
• gnomAD v3: 11-6393650-T-C
• gnomAD v4: 11-6393650-T-C
• MyVariant Identifiers: chr11:g.6414880T>C (hg19) ; chr11:g.6393650T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393650T>C , CM000673.2:g.6393650T>C	GRCh38
NC_000011.9:g.6414880T>C , CM000673.1:g.6414880T>C	GRCh37
NC_000011.8:g.6371456T>C	NCBI36
NG_011780.1:g.8226T>C
NG_029615.1:g.30765A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1297T>C MANE Select	ENSP00000340409.4:p.Cys433Arg
ENST00000342245.8:c.1297T>C	ENSP00000340409.4:p.Cys433Arg
ENST00000526280.1:c.354T>C
ENST00000527275.5:c.1294T>C	ENSP00000435350.1:p.Cys432Arg
ENST00000531303.5:c.*128T>C	ENSP00000432625.1:n.*128T>C
ENST00000531336.1:n.129T>C
ENST00000532367.1:n.133T>C
ENST00000533123.5:c.*24T>C	ENSP00000435950.1:n.*24T>C
ENST00000534405.5:c.*128T>C	ENSP00000434353.1:n.*128T>C
NM_000543.4:c.1297T>C	NP_000534.3:p.Cys433Arg
NM_001007593.2:c.1294T>C	NP_001007594.2:p.Cys432Arg
XM_005253075.3:c.1297T>C	XP_005253132.1:p.Cys433Arg
XM_011520303.1:c.1165T>C	XP_011518605.1:p.Cys389Arg
XM_011520304.1:c.1165T>C	XP_011518606.1:p.Cys389Arg
XR_930886.1:n.1635T>C
NM_001318087.1:c.1297T>C	NP_001305016.1:p.Cys433Arg
NM_001318088.1:c.376T>C	NP_001305017.1:p.Cys126Arg
NM_001365135.1:c.1165T>C	NP_001352064.1:p.Cys389Arg
NR_027400.2:n.1310T>C
NR_134502.1:n.829T>C
XM_011520304.2:c.1165T>C	XP_011518606.1:p.Cys389Arg
XR_001747940.2:n.1462T>C
XR_002957158.1:n.1462T>C
NM_000543.5:c.1297T>C MANE Select	NP_000534.3:p.Cys433Arg
NM_001007593.3:c.1294T>C	NP_001007594.2:p.Cys432Arg
NM_001318087.2:c.1297T>C	NP_001305016.1:p.Cys433Arg
NM_001318088.2:c.376T>C	NP_001305017.1:p.Cys126Arg
NM_001365135.2:c.1165T>C	NP_001352064.1:p.Cys389Arg
NR_027400.3:n.1250T>C
NR_134502.2:n.769T>C