Canonical Allele Identifier: CA10638917

Gene: SMPD1

Linked Data

• ClinVar Variation Id: 305206
• ClinVar RCV Id: RCV003765796 ; RCV000360554
• dbSNP Id: rs886048447
• gnomAD v4: 11-6394319-G-A
• MyVariant Identifiers: chr11:g.6415549G>A (hg19) ; chr11:g.6394319G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394319G>A , CM000673.2:g.6394319G>A	GRCh38
NC_000011.9:g.6415549G>A , CM000673.1:g.6415549G>A	GRCh37
NC_000011.8:g.6372125G>A	NCBI36
NG_011780.1:g.8895G>A
NG_029615.1:g.30096C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1608G>A MANE Select	ENSP00000340409.4:p.Gln536=
ENST00000342245.8:c.1608G>A	ENSP00000340409.4:p.Gln536=
ENST00000526280.1:c.665G>A
ENST00000527275.5:c.1605G>A	ENSP00000435350.1:p.Gln535=
ENST00000531303.5:c.*459G>A	ENSP00000432625.1:n.*459G>A
ENST00000531336.1:n.596G>A
ENST00000533123.5:c.*335G>A	ENSP00000435950.1:n.*335G>A
ENST00000534405.5:c.*439G>A	ENSP00000434353.1:n.*439G>A
NM_000543.4:c.1608G>A	NP_000534.3:p.Gln536=
NM_001007593.2:c.1605G>A	NP_001007594.2:p.Gln535=
XM_005253075.3:c.*101G>A	XP_005253132.1:n.*101G>A
XM_011520303.1:c.1476G>A	XP_011518605.1:p.Gln492=
XM_011520304.1:c.*101G>A	XP_011518606.1:n.*101G>A
NM_001318087.1:c.*101G>A	NP_001305016.1:n.*101G>A
NM_001318088.1:c.687G>A	NP_001305017.1:p.Gln229=
NM_001365135.1:c.1476G>A	NP_001352064.1:p.Gln492=
NR_027400.2:n.1621G>A
NR_134502.1:n.1160G>A
XM_011520304.2:c.*101G>A	XP_011518606.1:n.*101G>A
XR_001747940.2:n.1793G>A
XR_002957158.1:n.1975G>A
NM_000543.5:c.1608G>A MANE Select	NP_000534.3:p.Gln536=
NM_001007593.3:c.1605G>A	NP_001007594.2:p.Gln535=
NM_001318087.2:c.*101G>A	NP_001305016.1:n.*101G>A
NM_001318088.2:c.687G>A	NP_001305017.1:p.Gln229=
NM_001365135.2:c.1476G>A	NP_001352064.1:p.Gln492=
NR_027400.3:n.1561G>A
NR_134502.2:n.1100G>A