Canonical Allele Identifier: CA1950150323

Gene: SMPD1

Linked Data

• dbSNP Id: rs2065142951
• gnomAD v4: 11-6394678-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394678T>C , CM000673.2:g.6394678T>C	GRCh38
NC_000011.9:g.6415908T>C , CM000673.1:g.6415908T>C	GRCh37
NC_000011.8:g.6372484T>C	NCBI36
NG_011780.1:g.9254T>C
NG_029615.1:g.29737A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*71T>C MANE Select	ENSP00000340409.4:n.*71T>C
ENST00000342245.8:c.*71T>C	ENSP00000340409.4:n.*71T>C
ENST00000526280.1:c.1024T>C
ENST00000527275.5:c.*71T>C	ENSP00000435350.1:n.*71T>C
ENST00000531303.5:c.*818T>C	ENSP00000432625.1:n.*818T>C
ENST00000533123.5:c.*694T>C	ENSP00000435950.1:n.*694T>C
ENST00000534405.5:c.*798T>C	ENSP00000434353.1:n.*798T>C
NM_000543.4:c.*71T>C	NP_000534.3:n.*71T>C
NM_001007593.2:c.*71T>C	NP_001007594.2:n.*71T>C
XM_011520303.1:c.*71T>C	XP_011518605.1:n.*71T>C
NM_001318087.1:c.*460T>C	NP_001305016.1:n.*460T>C
NM_001318088.1:c.*71T>C	NP_001305017.1:n.*71T>C
NM_001365135.1:c.*71T>C	NP_001352064.1:n.*71T>C
NR_027400.2:n.1980T>C
NR_134502.1:n.1519T>C
XR_001747940.2:n.2152T>C
XR_002957158.1:n.2334T>C
NM_000543.5:c.*71T>C MANE Select	NP_000534.3:n.*71T>C
NM_001007593.3:c.*71T>C	NP_001007594.2:n.*71T>C
NM_001318087.2:c.*460T>C	NP_001305016.1:n.*460T>C
NM_001318088.2:c.*71T>C	NP_001305017.1:n.*71T>C
NM_001365135.2:c.*71T>C	NP_001352064.1:n.*71T>C
NR_027400.3:n.1920T>C
NR_134502.2:n.1459T>C