Canonical Allele Identifier: CA217302923

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 1126325
• ClinVar RCV Id: RCV001458362
• dbSNP Id: rs767055403
• gnomAD v4: 11-6394421-G-A
• MyVariant Identifiers: chr11:g.6415651G>A (hg19) ; chr11:g.6394421G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394421G>A , CM000673.2:g.6394421G>A	GRCh38
NC_000011.9:g.6415651G>A , CM000673.1:g.6415651G>A	GRCh37
NC_000011.8:g.6372227G>A	NCBI36
NG_011780.1:g.8997G>A
NG_029615.1:g.29994C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1710G>A MANE Select	ENSP00000340409.4:p.Gln570=
ENST00000342245.8:c.1710G>A	ENSP00000340409.4:p.Gln570=
ENST00000526280.1:c.767G>A
ENST00000527275.5:c.1707G>A	ENSP00000435350.1:p.Gln569=
ENST00000531303.5:c.*561G>A	ENSP00000432625.1:n.*561G>A
ENST00000533123.5:c.*437G>A	ENSP00000435950.1:n.*437G>A
ENST00000534405.5:c.*541G>A	ENSP00000434353.1:n.*541G>A
NM_000543.4:c.1710G>A	NP_000534.3:p.Gln570=
NM_001007593.2:c.1707G>A	NP_001007594.2:p.Gln569=
XM_005253075.3:c.*203G>A	XP_005253132.1:n.*203G>A
XM_011520303.1:c.1578G>A	XP_011518605.1:p.Gln526=
XM_011520304.1:c.*203G>A	XP_011518606.1:n.*203G>A
NM_001318087.1:c.*203G>A	NP_001305016.1:n.*203G>A
NM_001318088.1:c.789G>A	NP_001305017.1:p.Gln263=
NM_001365135.1:c.1578G>A	NP_001352064.1:p.Gln526=
NR_027400.2:n.1723G>A
NR_134502.1:n.1262G>A
XM_011520304.2:c.*203G>A	XP_011518606.1:n.*203G>A
XR_001747940.2:n.1895G>A
XR_002957158.1:n.2077G>A
NM_000543.5:c.1710G>A MANE Select	NP_000534.3:p.Gln570=
NM_001007593.3:c.1707G>A	NP_001007594.2:p.Gln569=
NM_001318087.2:c.*203G>A	NP_001305016.1:n.*203G>A
NM_001318088.2:c.789G>A	NP_001305017.1:p.Gln263=
NM_001365135.2:c.1578G>A	NP_001352064.1:p.Gln526=
NR_027400.3:n.1663G>A
NR_134502.2:n.1202G>A