Canonical Allele Identifier: CA5852931

Gene: SMPD1

Linked Data

• dbSNP Id: rs368806984
• ExAC: 11:6415480 C / G
• gnomAD v2: 11-6415480-C-G
• MyVariant Identifiers: chr11:g.6415480C>G (hg19) ; chr11:g.6394250C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394250C>G , CM000673.2:g.6394250C>G	GRCh38
NC_000011.9:g.6415480C>G , CM000673.1:g.6415480C>G	GRCh37
NC_000011.8:g.6372056C>G	NCBI36
NG_011780.1:g.8826C>G
NG_029615.1:g.30165G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1539C>G MANE Select	ENSP00000340409.4:p.Val513=
ENST00000342245.8:c.1539C>G	ENSP00000340409.4:p.Val513=
ENST00000526280.1:c.596C>G
ENST00000527275.5:c.1536C>G	ENSP00000435350.1:p.Val512=
ENST00000531303.5:c.*390C>G	ENSP00000432625.1:n.*390C>G
ENST00000531336.1:n.527C>G
ENST00000533123.5:c.*266C>G	ENSP00000435950.1:n.*266C>G
ENST00000534405.5:c.*370C>G	ENSP00000434353.1:n.*370C>G
NM_000543.4:c.1539C>G	NP_000534.3:p.Val513=
NM_001007593.2:c.1536C>G	NP_001007594.2:p.Val512=
XM_005253075.3:c.*32C>G	XP_005253132.1:n.*32C>G
XM_011520303.1:c.1407C>G	XP_011518605.1:p.Val469=
XM_011520304.1:c.*32C>G	XP_011518606.1:n.*32C>G
NM_001318087.1:c.*32C>G	NP_001305016.1:n.*32C>G
NM_001318088.1:c.618C>G	NP_001305017.1:p.Val206=
NM_001365135.1:c.1407C>G	NP_001352064.1:p.Val469=
NR_027400.2:n.1552C>G
NR_134502.1:n.1091C>G
XM_011520304.2:c.*32C>G	XP_011518606.1:n.*32C>G
XR_001747940.2:n.1724C>G
XR_002957158.1:n.1906C>G
NM_000543.5:c.1539C>G MANE Select	NP_000534.3:p.Val513=
NM_001007593.3:c.1536C>G	NP_001007594.2:p.Val512=
NM_001318087.2:c.*32C>G	NP_001305016.1:n.*32C>G
NM_001318088.2:c.618C>G	NP_001305017.1:p.Val206=
NM_001365135.2:c.1407C>G	NP_001352064.1:p.Val469=
NR_027400.3:n.1492C>G
NR_134502.2:n.1031C>G