Canonical Allele Identifier: CA2612224379

Gene: SMPD1

Linked Data

• dbSNP Id: rs2134025853
• gnomAD v4: 11-6394859-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394859C>G , CM000673.2:g.6394859C>G	GRCh38
NC_000011.9:g.6416089C>G , CM000673.1:g.6416089C>G	GRCh37
NC_000011.8:g.6372665C>G	NCBI36
NG_011780.1:g.9435C>G
NG_029615.1:g.29556G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*252C>G MANE Select	ENSP00000340409.4:n.*252C>G
ENST00000342245.8:c.*252C>G	ENSP00000340409.4:n.*252C>G
ENST00000526280.1:c.1205C>G
ENST00000533123.5:c.*875C>G	ENSP00000435950.1:n.*875C>G
ENST00000534405.5:c.*979C>G	ENSP00000434353.1:n.*979C>G
NM_000543.4:c.*252C>G	NP_000534.3:n.*252C>G
NM_001007593.2:c.*252C>G	NP_001007594.2:n.*252C>G
XM_011520303.1:c.*252C>G	XP_011518605.1:n.*252C>G
NM_001318087.1:c.*641C>G	NP_001305016.1:n.*641C>G
NM_001318088.1:c.*252C>G	NP_001305017.1:n.*252C>G
NM_001365135.1:c.*252C>G	NP_001352064.1:n.*252C>G
NR_027400.2:n.2161C>G
NR_134502.1:n.1700C>G
XR_001747940.2:n.2333C>G
XR_002957158.1:n.2515C>G
NM_000543.5:c.*252C>G MANE Select	NP_000534.3:n.*252C>G
NM_001007593.3:c.*252C>G	NP_001007594.2:n.*252C>G
NM_001318087.2:c.*641C>G	NP_001305016.1:n.*641C>G
NM_001318088.2:c.*252C>G	NP_001305017.1:n.*252C>G
NM_001365135.2:c.*252C>G	NP_001352064.1:n.*252C>G
NR_027400.3:n.2101C>G
NR_134502.2:n.1640C>G