Canonical Allele Identifier: CA934769805

Gene: SMPD1

Linked Data

• dbSNP Id: rs1848119232
• gnomAD v3: 11-6394833-G-A
• gnomAD v4: 11-6394833-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394833G>A , CM000673.2:g.6394833G>A	GRCh38
NC_000011.9:g.6416063G>A , CM000673.1:g.6416063G>A	GRCh37
NC_000011.8:g.6372639G>A	NCBI36
NG_011780.1:g.9409G>A
NG_029615.1:g.29582C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*226G>A MANE Select	ENSP00000340409.4:n.*226G>A
ENST00000342245.8:c.*226G>A	ENSP00000340409.4:n.*226G>A
ENST00000526280.1:c.1179G>A
ENST00000533123.5:c.*849G>A	ENSP00000435950.1:n.*849G>A
ENST00000534405.5:c.*953G>A	ENSP00000434353.1:n.*953G>A
NM_000543.4:c.*226G>A	NP_000534.3:n.*226G>A
NM_001007593.2:c.*226G>A	NP_001007594.2:n.*226G>A
XM_011520303.1:c.*226G>A	XP_011518605.1:n.*226G>A
NM_001318087.1:c.*615G>A	NP_001305016.1:n.*615G>A
NM_001318088.1:c.*226G>A	NP_001305017.1:n.*226G>A
NM_001365135.1:c.*226G>A	NP_001352064.1:n.*226G>A
NR_027400.2:n.2135G>A
NR_134502.1:n.1674G>A
XR_001747940.2:n.2307G>A
XR_002957158.1:n.2489G>A
NM_000543.5:c.*226G>A MANE Select	NP_000534.3:n.*226G>A
NM_001007593.3:c.*226G>A	NP_001007594.2:n.*226G>A
NM_001318087.2:c.*615G>A	NP_001305016.1:n.*615G>A
NM_001318088.2:c.*226G>A	NP_001305017.1:n.*226G>A
NM_001365135.2:c.*226G>A	NP_001352064.1:n.*226G>A
NR_027400.3:n.2075G>A
NR_134502.2:n.1614G>A