Canonical Allele Identifier: CA2612224477

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394923-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394923C>G , CM000673.2:g.6394923C>G	GRCh38
NC_000011.9:g.6416153C>G , CM000673.1:g.6416153C>G	GRCh37
NC_000011.8:g.6372729C>G	NCBI36
NG_011780.1:g.9499C>G
NG_029615.1:g.29492G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*316C>G MANE Select	ENSP00000340409.4:n.*316C>G
ENST00000342245.8:c.*316C>G	ENSP00000340409.4:n.*316C>G
ENST00000526280.1:c.1269C>G
ENST00000533123.5:c.*939C>G	ENSP00000435950.1:n.*939C>G
ENST00000534405.5:c.*1043C>G	ENSP00000434353.1:n.*1043C>G
NM_000543.4:c.*316C>G	NP_000534.3:n.*316C>G
NM_001007593.2:c.*316C>G	NP_001007594.2:n.*316C>G
XM_011520303.1:c.*316C>G	XP_011518605.1:n.*316C>G
NM_001318087.1:c.*705C>G	NP_001305016.1:n.*705C>G
NM_001318088.1:c.*316C>G	NP_001305017.1:n.*316C>G
NM_001365135.1:c.*316C>G	NP_001352064.1:n.*316C>G
NR_027400.2:n.2225C>G
NR_134502.1:n.1764C>G
XR_001747940.2:n.2397C>G
XR_002957158.1:n.2579C>G
NM_000543.5:c.*316C>G MANE Select	NP_000534.3:n.*316C>G
NM_001007593.3:c.*316C>G	NP_001007594.2:n.*316C>G
NM_001318087.2:c.*705C>G	NP_001305016.1:n.*705C>G
NM_001318088.2:c.*316C>G	NP_001305017.1:n.*316C>G
NM_001365135.2:c.*316C>G	NP_001352064.1:n.*316C>G
NR_027400.3:n.2165C>G
NR_134502.2:n.1704C>G