Canonical Allele Identifier: CA2790309884

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394931C>G , CM000673.2:g.6394931C>G	GRCh38
NC_000011.9:g.6416161C>G , CM000673.1:g.6416161C>G	GRCh37
NC_000011.8:g.6372737C>G	NCBI36
NG_011780.1:g.9507C>G
NG_029615.1:g.29484G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*324C>G MANE Select	ENSP00000340409.4:n.*324C>G
ENST00000342245.8:c.*324C>G	ENSP00000340409.4:n.*324C>G
ENST00000526280.1:c.1277C>G
ENST00000533123.5:c.*947C>G	ENSP00000435950.1:n.*947C>G
ENST00000534405.5:c.*1051C>G	ENSP00000434353.1:n.*1051C>G
NM_000543.4:c.*324C>G	NP_000534.3:n.*324C>G
NM_001007593.2:c.*324C>G	NP_001007594.2:n.*324C>G
XM_011520303.1:c.*324C>G	XP_011518605.1:n.*324C>G
NM_001318087.1:c.*713C>G	NP_001305016.1:n.*713C>G
NM_001318088.1:c.*324C>G	NP_001305017.1:n.*324C>G
NM_001365135.1:c.*324C>G	NP_001352064.1:n.*324C>G
NR_027400.2:n.2233C>G
NR_134502.1:n.1772C>G
XR_001747940.2:n.2405C>G
XR_002957158.1:n.2587C>G
NM_000543.5:c.*324C>G MANE Select	NP_000534.3:n.*324C>G
NM_001007593.3:c.*324C>G	NP_001007594.2:n.*324C>G
NM_001318087.2:c.*713C>G	NP_001305016.1:n.*713C>G
NM_001318088.2:c.*324C>G	NP_001305017.1:n.*324C>G
NM_001365135.2:c.*324C>G	NP_001352064.1:n.*324C>G
NR_027400.3:n.2173C>G
NR_134502.2:n.1712C>G