Canonical Allele Identifier: CA5852806

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 593052
• ClinVar RCV Id: RCV000727984 ; RCV001086882
• dbSNP Id: rs755182589
• ExAC: 11:6414551 G / A
• gnomAD v2: 11-6414551-G-A
• gnomAD v3: 11-6393321-G-A
• gnomAD v4: 11-6393321-G-A
• COSMIC: COSM2163751
• MyVariant Identifiers: chr11:g.6414551G>A (hg19) ; chr11:g.6393321G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393321G>A , CM000673.2:g.6393321G>A	GRCh38
NC_000011.9:g.6414551G>A , CM000673.1:g.6414551G>A	GRCh37
NC_000011.8:g.6371127G>A	NCBI36
NG_011780.1:g.7897G>A
NG_029615.1:g.31094C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1197G>A MANE Select	ENSP00000340409.4:p.Thr399=
ENST00000342245.8:c.1197G>A	ENSP00000340409.4:p.Thr399=
ENST00000526280.1:c.321-296G>A
ENST00000527275.5:c.1194G>A	ENSP00000435350.1:p.Thr398=
ENST00000531303.5:c.*28G>A	ENSP00000432625.1:n.*28G>A
ENST00000531336.1:n.29G>A
ENST00000533123.5:c.1092-296G>A	ENSP00000435950.1:n.1092-296G>A
ENST00000534405.5:c.*28G>A	ENSP00000434353.1:n.*28G>A
NM_000543.4:c.1197G>A	NP_000534.3:p.Thr399=
NM_001007593.2:c.1194G>A	NP_001007594.2:p.Thr398=
XM_005253075.3:c.1197G>A	XP_005253132.1:p.Thr399=
XM_011520303.1:c.1132-296G>A	XP_011518605.1:n.1132-296G>A
XM_011520304.1:c.1132-296G>A	XP_011518606.1:n.1132-296G>A
XR_930886.1:n.1535G>A
NM_001318087.1:c.1197G>A	NP_001305016.1:p.Thr399=
NM_001318088.1:c.276G>A	NP_001305017.1:p.Thr92=
NM_001365135.1:c.1132-296G>A	NP_001352064.1:n.1132-296G>A
NR_027400.2:n.1277-296G>A
NR_134502.1:n.729G>A
XM_011520304.2:c.1132-296G>A	XP_011518606.1:n.1132-296G>A
XR_001747940.2:n.1362G>A
XR_002957158.1:n.1362G>A
NM_000543.5:c.1197G>A MANE Select	NP_000534.3:p.Thr399=
NM_001007593.3:c.1194G>A	NP_001007594.2:p.Thr398=
NM_001318087.2:c.1197G>A	NP_001305016.1:p.Thr399=
NM_001318088.2:c.276G>A	NP_001305017.1:p.Thr92=
NM_001365135.2:c.1132-296G>A	NP_001352064.1:n.1132-296G>A
NR_027400.3:n.1217-296G>A
NR_134502.2:n.669G>A