Canonical Allele Identifier: CA5852945

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 286896
• ClinVar RCV Id: RCV000261207 ; RCV000305957 ; RCV000970644 ; RCV001249035 ; RCV003401256
• dbSNP Id: rs552841217
• ExAC: 11:6415540 G / A
• gnomAD v2: 11-6415540-G-A
• gnomAD v3: 11-6394310-G-A
• gnomAD v4: 11-6394310-G-A
• MyVariant Identifiers: chr11:g.6415540G>A (hg19) ; chr11:g.6394310G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394310G>A , CM000673.2:g.6394310G>A	GRCh38
NC_000011.9:g.6415540G>A , CM000673.1:g.6415540G>A	GRCh37
NC_000011.8:g.6372116G>A	NCBI36
NG_011780.1:g.8886G>A
NG_029615.1:g.30105C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1599G>A MANE Select	ENSP00000340409.4:p.Pro533=
ENST00000342245.8:c.1599G>A	ENSP00000340409.4:p.Pro533=
ENST00000526280.1:c.656G>A
ENST00000527275.5:c.1596G>A	ENSP00000435350.1:p.Pro532=
ENST00000531303.5:c.*450G>A	ENSP00000432625.1:n.*450G>A
ENST00000531336.1:n.587G>A
ENST00000533123.5:c.*326G>A	ENSP00000435950.1:n.*326G>A
ENST00000534405.5:c.*430G>A	ENSP00000434353.1:n.*430G>A
NM_000543.4:c.1599G>A	NP_000534.3:p.Pro533=
NM_001007593.2:c.1596G>A	NP_001007594.2:p.Pro532=
XM_005253075.3:c.*92G>A	XP_005253132.1:n.*92G>A
XM_011520303.1:c.1467G>A	XP_011518605.1:p.Pro489=
XM_011520304.1:c.*92G>A	XP_011518606.1:n.*92G>A
NM_001318087.1:c.*92G>A	NP_001305016.1:n.*92G>A
NM_001318088.1:c.678G>A	NP_001305017.1:p.Pro226=
NM_001365135.1:c.1467G>A	NP_001352064.1:p.Pro489=
NR_027400.2:n.1612G>A
NR_134502.1:n.1151G>A
XM_011520304.2:c.*92G>A	XP_011518606.1:n.*92G>A
XR_001747940.2:n.1784G>A
XR_002957158.1:n.1966G>A
NM_000543.5:c.1599G>A MANE Select	NP_000534.3:p.Pro533=
NM_001007593.3:c.1596G>A	NP_001007594.2:p.Pro532=
NM_001318087.2:c.*92G>A	NP_001305016.1:n.*92G>A
NM_001318088.2:c.678G>A	NP_001305017.1:p.Pro226=
NM_001365135.2:c.1467G>A	NP_001352064.1:p.Pro489=
NR_027400.3:n.1552G>A
NR_134502.2:n.1091G>A