Canonical Allele Identifier: CA1950150491

Gene: SMPD1

Linked Data

• dbSNP Id: rs1590749778

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394841A>C , CM000673.2:g.6394841A>C	GRCh38
NC_000011.9:g.6416071A>C , CM000673.1:g.6416071A>C	GRCh37
NC_000011.8:g.6372647A>C	NCBI36
NG_011780.1:g.9417A>C
NG_029615.1:g.29574T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*234A>C MANE Select	ENSP00000340409.4:n.*234A>C
ENST00000342245.8:c.*234A>C	ENSP00000340409.4:n.*234A>C
ENST00000526280.1:c.1187A>C
ENST00000533123.5:c.*857A>C	ENSP00000435950.1:n.*857A>C
ENST00000534405.5:c.*961A>C	ENSP00000434353.1:n.*961A>C
NM_000543.4:c.*234A>C	NP_000534.3:n.*234A>C
NM_001007593.2:c.*234A>C	NP_001007594.2:n.*234A>C
XM_011520303.1:c.*234A>C	XP_011518605.1:n.*234A>C
NM_001318087.1:c.*623A>C	NP_001305016.1:n.*623A>C
NM_001318088.1:c.*234A>C	NP_001305017.1:n.*234A>C
NM_001365135.1:c.*234A>C	NP_001352064.1:n.*234A>C
NR_027400.2:n.2143A>C
NR_134502.1:n.1682A>C
XR_001747940.2:n.2315A>C
XR_002957158.1:n.2497A>C
NM_000543.5:c.*234A>C MANE Select	NP_000534.3:n.*234A>C
NM_001007593.3:c.*234A>C	NP_001007594.2:n.*234A>C
NM_001318087.2:c.*623A>C	NP_001305016.1:n.*623A>C
NM_001318088.2:c.*234A>C	NP_001305017.1:n.*234A>C
NM_001365135.2:c.*234A>C	NP_001352064.1:n.*234A>C
NR_027400.3:n.2083A>C
NR_134502.2:n.1622A>C