Canonical Allele Identifier: CA5852985

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1085815
• ClinVar RCV Id: RCV001403376 ; RCV001831433 ; RCV003898416
• dbSNP Id: rs774989668
• ExAC: 11:6415705 G / A
• gnomAD v2: 11-6415705-G-A
• gnomAD v3: 11-6394475-G-A
• gnomAD v4: 11-6394475-G-A
• COSMIC: COSM930119 ; COSM930120
• MyVariant Identifiers: chr11:g.6415705G>A (hg19) ; chr11:g.6394475G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394475G>A , CM000673.2:g.6394475G>A	GRCh38
NC_000011.9:g.6415705G>A , CM000673.1:g.6415705G>A	GRCh37
NC_000011.8:g.6372281G>A	NCBI36
NG_011780.1:g.9051G>A
NG_029615.1:g.29940C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1764G>A MANE Select	ENSP00000340409.4:p.Thr588=
ENST00000342245.8:c.1764G>A	ENSP00000340409.4:p.Thr588=
ENST00000526280.1:c.821G>A
ENST00000527275.5:c.1761G>A	ENSP00000435350.1:p.Thr587=
ENST00000531303.5:c.*615G>A	ENSP00000432625.1:n.*615G>A
ENST00000533123.5:c.*491G>A	ENSP00000435950.1:n.*491G>A
ENST00000534405.5:c.*595G>A	ENSP00000434353.1:n.*595G>A
NM_000543.4:c.1764G>A	NP_000534.3:p.Thr588=
NM_001007593.2:c.1761G>A	NP_001007594.2:p.Thr587=
XM_005253075.3:c.*257G>A	XP_005253132.1:n.*257G>A
XM_011520303.1:c.1632G>A	XP_011518605.1:p.Thr544=
XM_011520304.1:c.*257G>A	XP_011518606.1:n.*257G>A
NM_001318087.1:c.*257G>A	NP_001305016.1:n.*257G>A
NM_001318088.1:c.843G>A	NP_001305017.1:p.Thr281=
NM_001365135.1:c.1632G>A	NP_001352064.1:p.Thr544=
NR_027400.2:n.1777G>A
NR_134502.1:n.1316G>A
XM_011520304.2:c.*257G>A	XP_011518606.1:n.*257G>A
XR_001747940.2:n.1949G>A
XR_002957158.1:n.2131G>A
NM_000543.5:c.1764G>A MANE Select	NP_000534.3:p.Thr588=
NM_001007593.3:c.1761G>A	NP_001007594.2:p.Thr587=
NM_001318087.2:c.*257G>A	NP_001305016.1:n.*257G>A
NM_001318088.2:c.843G>A	NP_001305017.1:p.Thr281=
NM_001365135.2:c.1632G>A	NP_001352064.1:p.Thr544=
NR_027400.3:n.1717G>A
NR_134502.2:n.1256G>A