Canonical Allele Identifier: CA2612220946

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6390546-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390546C>A , CM000673.2:g.6390546C>A	GRCh38
NC_000011.9:g.6411776C>A , CM000673.1:g.6411776C>A	GRCh37
NC_000011.8:g.6368352C>A	NCBI36
NG_011780.1:g.5122C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.-53C>A MANE Select	ENSP00000340409.4:n.-53C>A
ENST00000342245.8:c.-53C>A	ENSP00000340409.4:n.-53C>A
ENST00000527275.5:c.-53C>A	ENSP00000435350.1:n.-53C>A
ENST00000530395.1:c.-189C>A	ENSP00000431479.1:n.-189C>A
ENST00000533123.5:c.-53C>A	ENSP00000435950.1:n.-53C>A
ENST00000533196.1:n.107C>A
ENST00000534405.5:c.-53C>A	ENSP00000434353.1:n.-53C>A
NM_000543.4:c.-53C>A	NP_000534.3:n.-53C>A
NM_001007593.2:c.-53C>A	NP_001007594.2:n.-53C>A
XM_005253075.3:c.-53C>A	XP_005253132.1:n.-53C>A
XM_011520303.1:c.-53C>A	XP_011518605.1:n.-53C>A
XM_011520304.1:c.-53C>A	XP_011518606.1:n.-53C>A
XR_930886.1:n.246C>A
NM_001318087.1:c.-53C>A	NP_001305016.1:n.-53C>A
NM_001318088.1:c.-1014C>A	NP_001305017.1:n.-1014C>A
NM_001365135.1:c.-53C>A	NP_001352064.1:n.-53C>A
NR_027400.2:n.133C>A
NR_134502.1:n.133C>A
XM_011520304.2:c.-53C>A	XP_011518606.1:n.-53C>A
XR_001747940.2:n.73C>A
XR_002957158.1:n.73C>A
NM_000543.5:c.-53C>A MANE Select	NP_000534.3:n.-53C>A
NM_001007593.3:c.-53C>A	NP_001007594.2:n.-53C>A
NM_001318087.2:c.-53C>A	NP_001305016.1:n.-53C>A
NM_001318088.2:c.-1014C>A	NP_001305017.1:n.-1014C>A
NM_001365135.2:c.-53C>A	NP_001352064.1:n.-53C>A
NR_027400.3:n.73C>A
NR_134502.2:n.73C>A