Canonical Allele Identifier: CA5852740

Gene: SMPD1

Linked Data

• dbSNP Id: rs777942302
• ExAC: 11:6413342 G / A
• gnomAD v2: 11-6413342-G-A
• gnomAD v4: 11-6392112-G-A
• MyVariant Identifiers: chr11:g.6413342G>A (hg19) ; chr11:g.6392112G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392112G>A , CM000673.2:g.6392112G>A	GRCh38
NC_000011.9:g.6413342G>A , CM000673.1:g.6413342G>A	GRCh37
NC_000011.8:g.6369918G>A	NCBI36
NG_011780.1:g.6688G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1047G>A MANE Select	ENSP00000340409.4:p.Lys349=
ENST00000342245.8:c.1047G>A	ENSP00000340409.4:p.Lys349=
ENST00000526280.1:c.236G>A
ENST00000527275.5:c.1044G>A	ENSP00000435350.1:p.Lys348=
ENST00000531303.5:c.438+609G>A	ENSP00000432625.1:n.438+609G>A
ENST00000533123.5:c.1047G>A	ENSP00000435950.1:p.Lys349=
ENST00000534405.5:c.1047G>A	ENSP00000434353.1:p.Lys349=
NM_000543.4:c.1047G>A	NP_000534.3:p.Lys349=
NM_001007593.2:c.1044G>A	NP_001007594.2:p.Lys348=
XM_005253075.3:c.1047G>A	XP_005253132.1:p.Lys349=
XM_011520303.1:c.1047G>A	XP_011518605.1:p.Lys349=
XM_011520304.1:c.1047G>A	XP_011518606.1:p.Lys349=
XR_930886.1:n.1345G>A
NM_001318087.1:c.1047G>A	NP_001305016.1:p.Lys349=
NM_001318088.1:c.86G>A	NP_001305017.1:p.Arg29Lys
NM_001365135.1:c.1047G>A	NP_001352064.1:p.Lys349=
NR_027400.2:n.1232G>A
NR_134502.1:n.623+609G>A
XM_011520304.2:c.1047G>A	XP_011518606.1:p.Lys349=
XR_001747940.2:n.1172G>A
XR_002957158.1:n.1172G>A
NM_000543.5:c.1047G>A MANE Select	NP_000534.3:p.Lys349=
NM_001007593.3:c.1044G>A	NP_001007594.2:p.Lys348=
NM_001318087.2:c.1047G>A	NP_001305016.1:p.Lys349=
NM_001318088.2:c.86G>A	NP_001305017.1:p.Arg29Lys
NM_001365135.2:c.1047G>A	NP_001352064.1:p.Lys349=
NR_027400.3:n.1172G>A
NR_134502.2:n.563+609G>A