Canonical Allele Identifier: CA5852939

Gene: SMPD1

Linked Data

• dbSNP Id: rs746285905
• ExAC: 11:6415523 A / G
• gnomAD v2: 11-6415523-A-G
• MyVariant Identifiers: chr11:g.6415523A>G (hg19) ; chr11:g.6394293A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394293A>G , CM000673.2:g.6394293A>G	GRCh38
NC_000011.9:g.6415523A>G , CM000673.1:g.6415523A>G	GRCh37
NC_000011.8:g.6372099A>G	NCBI36
NG_011780.1:g.8869A>G
NG_029615.1:g.30122T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1582A>G MANE Select	ENSP00000340409.4:p.Ile528Val
ENST00000342245.8:c.1582A>G	ENSP00000340409.4:p.Ile528Val
ENST00000526280.1:c.639A>G
ENST00000527275.5:c.1579A>G	ENSP00000435350.1:p.Ile527Val
ENST00000531303.5:c.*433A>G	ENSP00000432625.1:n.*433A>G
ENST00000531336.1:n.570A>G
ENST00000533123.5:c.*309A>G	ENSP00000435950.1:n.*309A>G
ENST00000534405.5:c.*413A>G	ENSP00000434353.1:n.*413A>G
NM_000543.4:c.1582A>G	NP_000534.3:p.Ile528Val
NM_001007593.2:c.1579A>G	NP_001007594.2:p.Ile527Val
XM_005253075.3:c.*75A>G	XP_005253132.1:n.*75A>G
XM_011520303.1:c.1450A>G	XP_011518605.1:p.Ile484Val
XM_011520304.1:c.*75A>G	XP_011518606.1:n.*75A>G
NM_001318087.1:c.*75A>G	NP_001305016.1:n.*75A>G
NM_001318088.1:c.661A>G	NP_001305017.1:p.Ile221Val
NM_001365135.1:c.1450A>G	NP_001352064.1:p.Ile484Val
NR_027400.2:n.1595A>G
NR_134502.1:n.1134A>G
XM_011520304.2:c.*75A>G	XP_011518606.1:n.*75A>G
XR_001747940.2:n.1767A>G
XR_002957158.1:n.1949A>G
NM_000543.5:c.1582A>G MANE Select	NP_000534.3:p.Ile528Val
NM_001007593.3:c.1579A>G	NP_001007594.2:p.Ile527Val
NM_001318087.2:c.*75A>G	NP_001305016.1:n.*75A>G
NM_001318088.2:c.661A>G	NP_001305017.1:p.Ile221Val
NM_001365135.2:c.1450A>G	NP_001352064.1:p.Ile484Val
NR_027400.3:n.1535A>G
NR_134502.2:n.1074A>G