Canonical Allele Identifier: CA5852844

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 2136989
• ClinVar RCV Id: RCV003037365 ; RCV003331417
• dbSNP Id: rs767492080
• ExAC: 11:6414851 A / G
• gnomAD v2: 11-6414851-A-G
• gnomAD v3: 11-6393621-A-G
• gnomAD v4: 11-6393621-A-G
• MyVariant Identifiers: chr11:g.6414851A>G (hg19) ; chr11:g.6393621A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393621A>G , CM000673.2:g.6393621A>G	GRCh38
NC_000011.9:g.6414851A>G , CM000673.1:g.6414851A>G	GRCh37
NC_000011.8:g.6371427A>G	NCBI36
NG_011780.1:g.8197A>G
NG_029615.1:g.30794T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1268A>G MANE Select	ENSP00000340409.4:p.His423Arg
ENST00000342245.8:c.1268A>G	ENSP00000340409.4:p.His423Arg
ENST00000526280.1:c.325A>G
ENST00000527275.5:c.1265A>G	ENSP00000435350.1:p.His422Arg
ENST00000531303.5:c.*99A>G	ENSP00000432625.1:n.*99A>G
ENST00000531336.1:n.100A>G
ENST00000532367.1:n.104A>G
ENST00000533123.5:c.1096A>G	ENSP00000435950.1:p.Ile366Val
ENST00000534405.5:c.*99A>G	ENSP00000434353.1:n.*99A>G
NM_000543.4:c.1268A>G	NP_000534.3:p.His423Arg
NM_001007593.2:c.1265A>G	NP_001007594.2:p.His422Arg
XM_005253075.3:c.1268A>G	XP_005253132.1:p.His423Arg
XM_011520303.1:c.1136A>G	XP_011518605.1:p.His379Arg
XM_011520304.1:c.1136A>G	XP_011518606.1:p.His379Arg
XR_930886.1:n.1606A>G
NM_001318087.1:c.1268A>G	NP_001305016.1:p.His423Arg
NM_001318088.1:c.347A>G	NP_001305017.1:p.His116Arg
NM_001365135.1:c.1136A>G	NP_001352064.1:p.His379Arg
NR_027400.2:n.1281A>G
NR_134502.1:n.800A>G
XM_011520304.2:c.1136A>G	XP_011518606.1:p.His379Arg
XR_001747940.2:n.1433A>G
XR_002957158.1:n.1433A>G
NM_000543.5:c.1268A>G MANE Select	NP_000534.3:p.His423Arg
NM_001007593.3:c.1265A>G	NP_001007594.2:p.His422Arg
NM_001318087.2:c.1268A>G	NP_001305016.1:p.His423Arg
NM_001318088.2:c.347A>G	NP_001305017.1:p.His116Arg
NM_001365135.2:c.1136A>G	NP_001352064.1:p.His379Arg
NR_027400.3:n.1221A>G
NR_134502.2:n.740A>G