Canonical Allele Identifier: CA679182840

Gene: SMPD1

Linked Data

• dbSNP Id: rs948794356
• gnomAD v3: 11-6394900-C-G
• gnomAD v4: 11-6394900-C-G
• MyVariant Identifiers: chr11:g.6416130C>G (hg19) ; chr11:g.6394900C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394900C>G , CM000673.2:g.6394900C>G	GRCh38
NC_000011.9:g.6416130C>G , CM000673.1:g.6416130C>G	GRCh37
NC_000011.8:g.6372706C>G	NCBI36
NG_011780.1:g.9476C>G
NG_029615.1:g.29515G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*293C>G MANE Select	ENSP00000340409.4:n.*293C>G
ENST00000342245.8:c.*293C>G	ENSP00000340409.4:n.*293C>G
ENST00000526280.1:c.1246C>G
ENST00000533123.5:c.*916C>G	ENSP00000435950.1:n.*916C>G
ENST00000534405.5:c.*1020C>G	ENSP00000434353.1:n.*1020C>G
NM_000543.4:c.*293C>G	NP_000534.3:n.*293C>G
NM_001007593.2:c.*293C>G	NP_001007594.2:n.*293C>G
XM_011520303.1:c.*293C>G	XP_011518605.1:n.*293C>G
NM_001318087.1:c.*682C>G	NP_001305016.1:n.*682C>G
NM_001318088.1:c.*293C>G	NP_001305017.1:n.*293C>G
NM_001365135.1:c.*293C>G	NP_001352064.1:n.*293C>G
NR_027400.2:n.2202C>G
NR_134502.1:n.1741C>G
XR_001747940.2:n.2374C>G
XR_002957158.1:n.2556C>G
NM_000543.5:c.*293C>G MANE Select	NP_000534.3:n.*293C>G
NM_001007593.3:c.*293C>G	NP_001007594.2:n.*293C>G
NM_001318087.2:c.*682C>G	NP_001305016.1:n.*682C>G
NM_001318088.2:c.*293C>G	NP_001305017.1:n.*293C>G
NM_001365135.2:c.*293C>G	NP_001352064.1:n.*293C>G
NR_027400.3:n.2142C>G
NR_134502.2:n.1681C>G