Canonical Allele Identifier: CA2580986949

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394681A>G , CM000673.2:g.6394681A>G	GRCh38
NC_000011.9:g.6415911A>G , CM000673.1:g.6415911A>G	GRCh37
NC_000011.8:g.6372487A>G	NCBI36
NG_011780.1:g.9257A>G
NG_029615.1:g.29734T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*74A>G MANE Select	ENSP00000340409.4:n.*74A>G
ENST00000342245.8:c.*74A>G	ENSP00000340409.4:n.*74A>G
ENST00000526280.1:c.1027A>G
ENST00000527275.5:c.*74A>G	ENSP00000435350.1:n.*74A>G
ENST00000531303.5:c.*821A>G	ENSP00000432625.1:n.*821A>G
ENST00000533123.5:c.*697A>G	ENSP00000435950.1:n.*697A>G
ENST00000534405.5:c.*801A>G	ENSP00000434353.1:n.*801A>G
NM_000543.4:c.*74A>G	NP_000534.3:n.*74A>G
NM_001007593.2:c.*74A>G	NP_001007594.2:n.*74A>G
XM_011520303.1:c.*74A>G	XP_011518605.1:n.*74A>G
NM_001318087.1:c.*463A>G	NP_001305016.1:n.*463A>G
NM_001318088.1:c.*74A>G	NP_001305017.1:n.*74A>G
NM_001365135.1:c.*74A>G	NP_001352064.1:n.*74A>G
NR_027400.2:n.1983A>G
NR_134502.1:n.1522A>G
XR_001747940.2:n.2155A>G
XR_002957158.1:n.2337A>G
NM_000543.5:c.*74A>G MANE Select	NP_000534.3:n.*74A>G
NM_001007593.3:c.*74A>G	NP_001007594.2:n.*74A>G
NM_001318087.2:c.*463A>G	NP_001305016.1:n.*463A>G
NM_001318088.2:c.*74A>G	NP_001305017.1:n.*74A>G
NM_001365135.2:c.*74A>G	NP_001352064.1:n.*74A>G
NR_027400.3:n.1923A>G
NR_134502.2:n.1462A>G