Canonical Allele Identifier: CA379376550

Gene: SMPD1

Linked Data

• MyVariant Identifiers: chr11:g.6415563C>G (hg19) ; chr11:g.6394333C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394333C>G , CM000673.2:g.6394333C>G	GRCh38
NC_000011.9:g.6415563C>G , CM000673.1:g.6415563C>G	GRCh37
NC_000011.8:g.6372139C>G	NCBI36
NG_011780.1:g.8909C>G
NG_029615.1:g.30082G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1622C>G MANE Select	ENSP00000340409.4:p.Ala541Gly
ENST00000342245.8:c.1622C>G	ENSP00000340409.4:p.Ala541Gly
ENST00000526280.1:c.679C>G
ENST00000527275.5:c.1619C>G	ENSP00000435350.1:p.Ala540Gly
ENST00000531303.5:c.*473C>G	ENSP00000432625.1:n.*473C>G
ENST00000531336.1:n.610C>G
ENST00000533123.5:c.*349C>G	ENSP00000435950.1:n.*349C>G
ENST00000534405.5:c.*453C>G	ENSP00000434353.1:n.*453C>G
NM_000543.4:c.1622C>G	NP_000534.3:p.Ala541Gly
NM_001007593.2:c.1619C>G	NP_001007594.2:p.Ala540Gly
XM_005253075.3:c.*115C>G	XP_005253132.1:n.*115C>G
XM_011520303.1:c.1490C>G	XP_011518605.1:p.Ala497Gly
XM_011520304.1:c.*115C>G	XP_011518606.1:n.*115C>G
NM_001318087.1:c.*115C>G	NP_001305016.1:n.*115C>G
NM_001318088.1:c.701C>G	NP_001305017.1:p.Ala234Gly
NM_001365135.1:c.1490C>G	NP_001352064.1:p.Ala497Gly
NR_027400.2:n.1635C>G
NR_134502.1:n.1174C>G
XM_011520304.2:c.*115C>G	XP_011518606.1:n.*115C>G
XR_001747940.2:n.1807C>G
XR_002957158.1:n.1989C>G
NM_000543.5:c.1622C>G MANE Select	NP_000534.3:p.Ala541Gly
NM_001007593.3:c.1619C>G	NP_001007594.2:p.Ala540Gly
NM_001318087.2:c.*115C>G	NP_001305016.1:n.*115C>G
NM_001318088.2:c.701C>G	NP_001305017.1:p.Ala234Gly
NM_001365135.2:c.1490C>G	NP_001352064.1:p.Ala497Gly
NR_027400.3:n.1575C>G
NR_134502.2:n.1114C>G