Canonical Allele Identifier: CA5852845

Gene: SMPD1

Linked Data

• dbSNP Id: rs753011073
• ExAC: 11:6414853 A / G
• gnomAD v2: 11-6414853-A-G
• gnomAD v4: 11-6393623-A-G
• MyVariant Identifiers: chr11:g.6414853A>G (hg19) ; chr11:g.6393623A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393623A>G , CM000673.2:g.6393623A>G	GRCh38
NC_000011.9:g.6414853A>G , CM000673.1:g.6414853A>G	GRCh37
NC_000011.8:g.6371429A>G	NCBI36
NG_011780.1:g.8199A>G
NG_029615.1:g.30792T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1270A>G MANE Select	ENSP00000340409.4:p.Ile424Val
ENST00000342245.8:c.1270A>G	ENSP00000340409.4:p.Ile424Val
ENST00000526280.1:c.327A>G
ENST00000527275.5:c.1267A>G	ENSP00000435350.1:p.Ile423Val
ENST00000531303.5:c.*101A>G	ENSP00000432625.1:n.*101A>G
ENST00000531336.1:n.102A>G
ENST00000532367.1:n.106A>G
ENST00000533123.5:c.1098A>G	ENSP00000435950.1:p.Ile366Met
ENST00000534405.5:c.*101A>G	ENSP00000434353.1:n.*101A>G
NM_000543.4:c.1270A>G	NP_000534.3:p.Ile424Val
NM_001007593.2:c.1267A>G	NP_001007594.2:p.Ile423Val
XM_005253075.3:c.1270A>G	XP_005253132.1:p.Ile424Val
XM_011520303.1:c.1138A>G	XP_011518605.1:p.Ile380Val
XM_011520304.1:c.1138A>G	XP_011518606.1:p.Ile380Val
XR_930886.1:n.1608A>G
NM_001318087.1:c.1270A>G	NP_001305016.1:p.Ile424Val
NM_001318088.1:c.349A>G	NP_001305017.1:p.Ile117Val
NM_001365135.1:c.1138A>G	NP_001352064.1:p.Ile380Val
NR_027400.2:n.1283A>G
NR_134502.1:n.802A>G
XM_011520304.2:c.1138A>G	XP_011518606.1:p.Ile380Val
XR_001747940.2:n.1435A>G
XR_002957158.1:n.1435A>G
NM_000543.5:c.1270A>G MANE Select	NP_000534.3:p.Ile424Val
NM_001007593.3:c.1267A>G	NP_001007594.2:p.Ile423Val
NM_001318087.2:c.1270A>G	NP_001305016.1:p.Ile424Val
NM_001318088.2:c.349A>G	NP_001305017.1:p.Ile117Val
NM_001365135.2:c.1138A>G	NP_001352064.1:p.Ile380Val
NR_027400.3:n.1223A>G
NR_134502.2:n.742A>G