Canonical Allele Identifier: CA2612224270

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394780-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394780T>A , CM000673.2:g.6394780T>A	GRCh38
NC_000011.9:g.6416010T>A , CM000673.1:g.6416010T>A	GRCh37
NC_000011.8:g.6372586T>A	NCBI36
NG_011780.1:g.9356T>A
NG_029615.1:g.29635A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*173T>A MANE Select	ENSP00000340409.4:n.*173T>A
ENST00000342245.8:c.*173T>A	ENSP00000340409.4:n.*173T>A
ENST00000526280.1:c.1126T>A
ENST00000533123.5:c.*796T>A	ENSP00000435950.1:n.*796T>A
ENST00000534405.5:c.*900T>A	ENSP00000434353.1:n.*900T>A
NM_000543.4:c.*173T>A	NP_000534.3:n.*173T>A
NM_001007593.2:c.*173T>A	NP_001007594.2:n.*173T>A
XM_011520303.1:c.*173T>A	XP_011518605.1:n.*173T>A
NM_001318087.1:c.*562T>A	NP_001305016.1:n.*562T>A
NM_001318088.1:c.*173T>A	NP_001305017.1:n.*173T>A
NM_001365135.1:c.*173T>A	NP_001352064.1:n.*173T>A
NR_027400.2:n.2082T>A
NR_134502.1:n.1621T>A
XR_001747940.2:n.2254T>A
XR_002957158.1:n.2436T>A
NM_000543.5:c.*173T>A MANE Select	NP_000534.3:n.*173T>A
NM_001007593.3:c.*173T>A	NP_001007594.2:n.*173T>A
NM_001318087.2:c.*562T>A	NP_001305016.1:n.*562T>A
NM_001318088.2:c.*173T>A	NP_001305017.1:n.*173T>A
NM_001365135.2:c.*173T>A	NP_001352064.1:n.*173T>A
NR_027400.3:n.2022T>A
NR_134502.2:n.1561T>A