Canonical Allele Identifier: CA2612220864

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6390458-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390458C>G , CM000673.2:g.6390458C>G	GRCh38
NC_000011.9:g.6411688C>G , CM000673.1:g.6411688C>G	GRCh37
NC_000011.8:g.6368264C>G	NCBI36
NG_011780.1:g.5034C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.8:c.-141C>G	ENSP00000340409.4:n.-141C>G
ENST00000530395.1:c.-277C>G	ENSP00000431479.1:n.-277C>G
ENST00000533196.1:n.19C>G
NM_000543.4:c.-141C>G	NP_000534.3:n.-141C>G
NM_001007593.2:c.-141C>G	NP_001007594.2:n.-141C>G
XM_005253075.3:c.-141C>G	XP_005253132.1:n.-141C>G
XM_011520303.1:c.-141C>G	XP_011518605.1:n.-141C>G
XM_011520304.1:c.-141C>G	XP_011518606.1:n.-141C>G
XR_930886.1:n.158C>G
NM_001318087.1:c.-141C>G	NP_001305016.1:n.-141C>G
NM_001318088.1:c.-1102C>G	NP_001305017.1:n.-1102C>G
NR_027400.2:n.45C>G
NR_134502.1:n.45C>G