Canonical Allele Identifier: CA2574738514

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390521C>G , CM000673.2:g.6390521C>G	GRCh38
NC_000011.9:g.6411751C>G , CM000673.1:g.6411751C>G	GRCh37
NC_000011.8:g.6368327C>G	NCBI36
NG_011780.1:g.5097C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.-78C>G MANE Select	ENSP00000340409.4:n.-78C>G
ENST00000342245.8:c.-78C>G	ENSP00000340409.4:n.-78C>G
ENST00000527275.5:c.-78C>G	ENSP00000435350.1:n.-78C>G
ENST00000530395.1:c.-214C>G	ENSP00000431479.1:n.-214C>G
ENST00000533123.5:c.-78C>G	ENSP00000435950.1:n.-78C>G
ENST00000533196.1:n.82C>G
ENST00000534405.5:c.-78C>G	ENSP00000434353.1:n.-78C>G
NM_000543.4:c.-78C>G	NP_000534.3:n.-78C>G
NM_001007593.2:c.-78C>G	NP_001007594.2:n.-78C>G
XM_005253075.3:c.-78C>G	XP_005253132.1:n.-78C>G
XM_011520303.1:c.-78C>G	XP_011518605.1:n.-78C>G
XM_011520304.1:c.-78C>G	XP_011518606.1:n.-78C>G
XR_930886.1:n.221C>G
NM_001318087.1:c.-78C>G	NP_001305016.1:n.-78C>G
NM_001318088.1:c.-1039C>G	NP_001305017.1:n.-1039C>G
NM_001365135.1:c.-78C>G	NP_001352064.1:n.-78C>G
NR_027400.2:n.108C>G
NR_134502.1:n.108C>G
XM_011520304.2:c.-78C>G	XP_011518606.1:n.-78C>G
XR_001747940.2:n.48C>G
XR_002957158.1:n.48C>G
NM_000543.5:c.-78C>G MANE Select	NP_000534.3:n.-78C>G
NM_001007593.3:c.-78C>G	NP_001007594.2:n.-78C>G
NM_001318087.2:c.-78C>G	NP_001305016.1:n.-78C>G
NM_001318088.2:c.-1039C>G	NP_001305017.1:n.-1039C>G
NM_001365135.2:c.-78C>G	NP_001352064.1:n.-78C>G
NR_027400.3:n.48C>G
NR_134502.2:n.48C>G