Canonical Allele Identifier: CA2612224218

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394726-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394726A>G , CM000673.2:g.6394726A>G	GRCh38
NC_000011.9:g.6415956A>G , CM000673.1:g.6415956A>G	GRCh37
NC_000011.8:g.6372532A>G	NCBI36
NG_011780.1:g.9302A>G
NG_029615.1:g.29689T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*119A>G MANE Select	ENSP00000340409.4:n.*119A>G
ENST00000342245.8:c.*119A>G	ENSP00000340409.4:n.*119A>G
ENST00000526280.1:c.1072A>G
ENST00000527275.5:c.*119A>G	ENSP00000435350.1:n.*119A>G
ENST00000531303.5:c.*866A>G	ENSP00000432625.1:n.*866A>G
ENST00000533123.5:c.*742A>G	ENSP00000435950.1:n.*742A>G
ENST00000534405.5:c.*846A>G	ENSP00000434353.1:n.*846A>G
NM_000543.4:c.*119A>G	NP_000534.3:n.*119A>G
NM_001007593.2:c.*119A>G	NP_001007594.2:n.*119A>G
XM_011520303.1:c.*119A>G	XP_011518605.1:n.*119A>G
NM_001318087.1:c.*508A>G	NP_001305016.1:n.*508A>G
NM_001318088.1:c.*119A>G	NP_001305017.1:n.*119A>G
NM_001365135.1:c.*119A>G	NP_001352064.1:n.*119A>G
NR_027400.2:n.2028A>G
NR_134502.1:n.1567A>G
XR_001747940.2:n.2200A>G
XR_002957158.1:n.2382A>G
NM_000543.5:c.*119A>G MANE Select	NP_000534.3:n.*119A>G
NM_001007593.3:c.*119A>G	NP_001007594.2:n.*119A>G
NM_001318087.2:c.*508A>G	NP_001305016.1:n.*508A>G
NM_001318088.2:c.*119A>G	NP_001305017.1:n.*119A>G
NM_001365135.2:c.*119A>G	NP_001352064.1:n.*119A>G
NR_027400.3:n.1968A>G
NR_134502.2:n.1507A>G