Canonical Allele Identifier: CA2612224181

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394682-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394682A>G , CM000673.2:g.6394682A>G	GRCh38
NC_000011.9:g.6415912A>G , CM000673.1:g.6415912A>G	GRCh37
NC_000011.8:g.6372488A>G	NCBI36
NG_011780.1:g.9258A>G
NG_029615.1:g.29733T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*75A>G MANE Select	ENSP00000340409.4:n.*75A>G
ENST00000342245.8:c.*75A>G	ENSP00000340409.4:n.*75A>G
ENST00000526280.1:c.1028A>G
ENST00000527275.5:c.*75A>G	ENSP00000435350.1:n.*75A>G
ENST00000531303.5:c.*822A>G	ENSP00000432625.1:n.*822A>G
ENST00000533123.5:c.*698A>G	ENSP00000435950.1:n.*698A>G
ENST00000534405.5:c.*802A>G	ENSP00000434353.1:n.*802A>G
NM_000543.4:c.*75A>G	NP_000534.3:n.*75A>G
NM_001007593.2:c.*75A>G	NP_001007594.2:n.*75A>G
XM_011520303.1:c.*75A>G	XP_011518605.1:n.*75A>G
NM_001318087.1:c.*464A>G	NP_001305016.1:n.*464A>G
NM_001318088.1:c.*75A>G	NP_001305017.1:n.*75A>G
NM_001365135.1:c.*75A>G	NP_001352064.1:n.*75A>G
NR_027400.2:n.1984A>G
NR_134502.1:n.1523A>G
XR_001747940.2:n.2156A>G
XR_002957158.1:n.2338A>G
NM_000543.5:c.*75A>G MANE Select	NP_000534.3:n.*75A>G
NM_001007593.3:c.*75A>G	NP_001007594.2:n.*75A>G
NM_001318087.2:c.*464A>G	NP_001305016.1:n.*464A>G
NM_001318088.2:c.*75A>G	NP_001305017.1:n.*75A>G
NM_001365135.2:c.*75A>G	NP_001352064.1:n.*75A>G
NR_027400.3:n.1924A>G
NR_134502.2:n.1463A>G