Canonical Allele Identifier: CA217303200

Gene: SMPD1

Linked Data

• dbSNP Id: rs928017026
• gnomAD v2: 11-6416122-G-A
• gnomAD v3: 11-6394892-G-A
• gnomAD v4: 11-6394892-G-A
• MyVariant Identifiers: chr11:g.6416122G>A (hg19) ; chr11:g.6394892G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394892G>A , CM000673.2:g.6394892G>A	GRCh38
NC_000011.9:g.6416122G>A , CM000673.1:g.6416122G>A	GRCh37
NC_000011.8:g.6372698G>A	NCBI36
NG_011780.1:g.9468G>A
NG_029615.1:g.29523C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*285G>A MANE Select	ENSP00000340409.4:n.*285G>A
ENST00000342245.8:c.*285G>A	ENSP00000340409.4:n.*285G>A
ENST00000526280.1:c.1238G>A
ENST00000533123.5:c.*908G>A	ENSP00000435950.1:n.*908G>A
ENST00000534405.5:c.*1012G>A	ENSP00000434353.1:n.*1012G>A
NM_000543.4:c.*285G>A	NP_000534.3:n.*285G>A
NM_001007593.2:c.*285G>A	NP_001007594.2:n.*285G>A
XM_011520303.1:c.*285G>A	XP_011518605.1:n.*285G>A
NM_001318087.1:c.*674G>A	NP_001305016.1:n.*674G>A
NM_001318088.1:c.*285G>A	NP_001305017.1:n.*285G>A
NM_001365135.1:c.*285G>A	NP_001352064.1:n.*285G>A
NR_027400.2:n.2194G>A
NR_134502.1:n.1733G>A
XR_001747940.2:n.2366G>A
XR_002957158.1:n.2548G>A
NM_000543.5:c.*285G>A MANE Select	NP_000534.3:n.*285G>A
NM_001007593.3:c.*285G>A	NP_001007594.2:n.*285G>A
NM_001318087.2:c.*674G>A	NP_001305016.1:n.*674G>A
NM_001318088.2:c.*285G>A	NP_001305017.1:n.*285G>A
NM_001365135.2:c.*285G>A	NP_001352064.1:n.*285G>A
NR_027400.3:n.2134G>A
NR_134502.2:n.1673G>A