Canonical Allele Identifier: CA2723269512

Gene: SMPD1

Linked Data

• dbSNP Id: rs2134025831

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394854A>G , CM000673.2:g.6394854A>G	GRCh38
NC_000011.9:g.6416084A>G , CM000673.1:g.6416084A>G	GRCh37
NC_000011.8:g.6372660A>G	NCBI36
NG_011780.1:g.9430A>G
NG_029615.1:g.29561T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*247A>G MANE Select	ENSP00000340409.4:n.*247A>G
ENST00000342245.8:c.*247A>G	ENSP00000340409.4:n.*247A>G
ENST00000526280.1:c.1200A>G
ENST00000533123.5:c.*870A>G	ENSP00000435950.1:n.*870A>G
ENST00000534405.5:c.*974A>G	ENSP00000434353.1:n.*974A>G
NM_000543.4:c.*247A>G	NP_000534.3:n.*247A>G
NM_001007593.2:c.*247A>G	NP_001007594.2:n.*247A>G
XM_011520303.1:c.*247A>G	XP_011518605.1:n.*247A>G
NM_001318087.1:c.*636A>G	NP_001305016.1:n.*636A>G
NM_001318088.1:c.*247A>G	NP_001305017.1:n.*247A>G
NM_001365135.1:c.*247A>G	NP_001352064.1:n.*247A>G
NR_027400.2:n.2156A>G
NR_134502.1:n.1695A>G
XR_001747940.2:n.2328A>G
XR_002957158.1:n.2510A>G
NM_000543.5:c.*247A>G MANE Select	NP_000534.3:n.*247A>G
NM_001007593.3:c.*247A>G	NP_001007594.2:n.*247A>G
NM_001318087.2:c.*636A>G	NP_001305016.1:n.*636A>G
NM_001318088.2:c.*247A>G	NP_001305017.1:n.*247A>G
NM_001365135.2:c.*247A>G	NP_001352064.1:n.*247A>G
NR_027400.3:n.2096A>G
NR_134502.2:n.1635A>G