Canonical Allele Identifier: CA2612224473

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394921-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394921A>G , CM000673.2:g.6394921A>G	GRCh38
NC_000011.9:g.6416151A>G , CM000673.1:g.6416151A>G	GRCh37
NC_000011.8:g.6372727A>G	NCBI36
NG_011780.1:g.9497A>G
NG_029615.1:g.29494T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*314A>G MANE Select	ENSP00000340409.4:n.*314A>G
ENST00000342245.8:c.*314A>G	ENSP00000340409.4:n.*314A>G
ENST00000526280.1:c.1267A>G
ENST00000533123.5:c.*937A>G	ENSP00000435950.1:n.*937A>G
ENST00000534405.5:c.*1041A>G	ENSP00000434353.1:n.*1041A>G
NM_000543.4:c.*314A>G	NP_000534.3:n.*314A>G
NM_001007593.2:c.*314A>G	NP_001007594.2:n.*314A>G
XM_011520303.1:c.*314A>G	XP_011518605.1:n.*314A>G
NM_001318087.1:c.*703A>G	NP_001305016.1:n.*703A>G
NM_001318088.1:c.*314A>G	NP_001305017.1:n.*314A>G
NM_001365135.1:c.*314A>G	NP_001352064.1:n.*314A>G
NR_027400.2:n.2223A>G
NR_134502.1:n.1762A>G
XR_001747940.2:n.2395A>G
XR_002957158.1:n.2577A>G
NM_000543.5:c.*314A>G MANE Select	NP_000534.3:n.*314A>G
NM_001007593.3:c.*314A>G	NP_001007594.2:n.*314A>G
NM_001318087.2:c.*703A>G	NP_001305016.1:n.*703A>G
NM_001318088.2:c.*314A>G	NP_001305017.1:n.*314A>G
NM_001365135.2:c.*314A>G	NP_001352064.1:n.*314A>G
NR_027400.3:n.2163A>G
NR_134502.2:n.1702A>G