Canonical Allele Identifier: CA2612220884

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6390474-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390474A>G , CM000673.2:g.6390474A>G	GRCh38
NC_000011.9:g.6411704A>G , CM000673.1:g.6411704A>G	GRCh37
NC_000011.8:g.6368280A>G	NCBI36
NG_011780.1:g.5050A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.-125A>G MANE Select	ENSP00000340409.4:n.-125A>G
ENST00000342245.8:c.-125A>G	ENSP00000340409.4:n.-125A>G
ENST00000530395.1:c.-261A>G	ENSP00000431479.1:n.-261A>G
ENST00000533196.1:n.35A>G
ENST00000534405.5:c.-125A>G	ENSP00000434353.1:n.-125A>G
NM_000543.4:c.-125A>G	NP_000534.3:n.-125A>G
NM_001007593.2:c.-125A>G	NP_001007594.2:n.-125A>G
XM_005253075.3:c.-125A>G	XP_005253132.1:n.-125A>G
XM_011520303.1:c.-125A>G	XP_011518605.1:n.-125A>G
XM_011520304.1:c.-125A>G	XP_011518606.1:n.-125A>G
XR_930886.1:n.174A>G
NM_001318087.1:c.-125A>G	NP_001305016.1:n.-125A>G
NM_001318088.1:c.-1086A>G	NP_001305017.1:n.-1086A>G
NM_001365135.1:c.-125A>G	NP_001352064.1:n.-125A>G
NR_027400.2:n.61A>G
NR_134502.1:n.61A>G
XM_011520304.2:c.-125A>G	XP_011518606.1:n.-125A>G
XR_001747940.2:n.1A>G
XR_002957158.1:n.1A>G
NM_000543.5:c.-125A>G MANE Select	NP_000534.3:n.-125A>G
NM_001007593.3:c.-125A>G	NP_001007594.2:n.-125A>G
NM_001318087.2:c.-125A>G	NP_001305016.1:n.-125A>G
NM_001318088.2:c.-1086A>G	NP_001305017.1:n.-1086A>G
NM_001365135.2:c.-125A>G	NP_001352064.1:n.-125A>G
NR_027400.3:n.1A>G
NR_134502.2:n.1A>G