Canonical Allele Identifier: CA5852797

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 554977
• ClinVar RCV Id: RCV000670710 ; RCV001056291 ; RCV001509398 ; RCV003226361
• dbSNP Id: rs559088058
• ExAC: 11:6414487 G / A
• gnomAD v2: 11-6414487-G-A
• gnomAD v3: 11-6393257-G-A
• gnomAD v4: 11-6393257-G-A
• COSMIC: COSM1355616
• MyVariant Identifiers: chr11:g.6414487G>A (hg19) ; chr11:g.6393257G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393257G>A , CM000673.2:g.6393257G>A	GRCh38
NC_000011.9:g.6414487G>A , CM000673.1:g.6414487G>A	GRCh37
NC_000011.8:g.6371063G>A	NCBI36
NG_011780.1:g.7833G>A
NG_029615.1:g.31158C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1133G>A MANE Select	ENSP00000340409.4:p.Arg378His
ENST00000342245.8:c.1133G>A	ENSP00000340409.4:p.Arg378His
ENST00000526280.1:c.321-360G>A
ENST00000527275.5:c.1130G>A	ENSP00000435350.1:p.Arg377His
ENST00000531303.5:c.480G>A	ENSP00000432625.1:p.Pro160=
ENST00000533123.5:c.1092-360G>A	ENSP00000435950.1:n.1092-360G>A
ENST00000534405.5:c.1173G>A	ENSP00000434353.1:p.Pro391=
NM_000543.4:c.1133G>A	NP_000534.3:p.Arg378His
NM_001007593.2:c.1130G>A	NP_001007594.2:p.Arg377His
XM_005253075.3:c.1133G>A	XP_005253132.1:p.Arg378His
XM_011520303.1:c.1132-360G>A	XP_011518605.1:n.1132-360G>A
XM_011520304.1:c.1132-360G>A	XP_011518606.1:n.1132-360G>A
XR_930886.1:n.1471G>A
NM_001318087.1:c.1133G>A	NP_001305016.1:p.Arg378His
NM_001318088.1:c.212G>A	NP_001305017.1:p.Arg71His
NM_001365135.1:c.1132-360G>A	NP_001352064.1:n.1132-360G>A
NR_027400.2:n.1277-360G>A
NR_134502.1:n.665G>A
XM_011520304.2:c.1132-360G>A	XP_011518606.1:n.1132-360G>A
XR_001747940.2:n.1298G>A
XR_002957158.1:n.1298G>A
NM_000543.5:c.1133G>A MANE Select	NP_000534.3:p.Arg378His
NM_001007593.3:c.1130G>A	NP_001007594.2:p.Arg377His
NM_001318087.2:c.1133G>A	NP_001305016.1:p.Arg378His
NM_001318088.2:c.212G>A	NP_001305017.1:p.Arg71His
NM_001365135.2:c.1132-360G>A	NP_001352064.1:n.1132-360G>A
NR_027400.3:n.1217-360G>A
NR_134502.2:n.605G>A