Canonical Allele Identifier: CA2612224381

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394860-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394860C>A , CM000673.2:g.6394860C>A	GRCh38
NC_000011.9:g.6416090C>A , CM000673.1:g.6416090C>A	GRCh37
NC_000011.8:g.6372666C>A	NCBI36
NG_011780.1:g.9436C>A
NG_029615.1:g.29555G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*253C>A MANE Select	ENSP00000340409.4:n.*253C>A
ENST00000342245.8:c.*253C>A	ENSP00000340409.4:n.*253C>A
ENST00000526280.1:c.1206C>A
ENST00000533123.5:c.*876C>A	ENSP00000435950.1:n.*876C>A
ENST00000534405.5:c.*980C>A	ENSP00000434353.1:n.*980C>A
NM_000543.4:c.*253C>A	NP_000534.3:n.*253C>A
NM_001007593.2:c.*253C>A	NP_001007594.2:n.*253C>A
XM_011520303.1:c.*253C>A	XP_011518605.1:n.*253C>A
NM_001318087.1:c.*642C>A	NP_001305016.1:n.*642C>A
NM_001318088.1:c.*253C>A	NP_001305017.1:n.*253C>A
NM_001365135.1:c.*253C>A	NP_001352064.1:n.*253C>A
NR_027400.2:n.2162C>A
NR_134502.1:n.1701C>A
XR_001747940.2:n.2334C>A
XR_002957158.1:n.2516C>A
NM_000543.5:c.*253C>A MANE Select	NP_000534.3:n.*253C>A
NM_001007593.3:c.*253C>A	NP_001007594.2:n.*253C>A
NM_001318087.2:c.*642C>A	NP_001305016.1:n.*642C>A
NM_001318088.2:c.*253C>A	NP_001305017.1:n.*253C>A
NM_001365135.2:c.*253C>A	NP_001352064.1:n.*253C>A
NR_027400.3:n.2102C>A
NR_134502.2:n.1641C>A