Canonical Allele Identifier: CA379377152

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394503C>T , CM000673.2:g.6394503C>T	GRCh38
NC_000011.9:g.6415733C>T , CM000673.1:g.6415733C>T	GRCh37
NC_000011.8:g.6372309C>T	NCBI36
NG_011780.1:g.9079C>T
NG_029615.1:g.29912G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.5:c.1792C>T MANE Select	NP_000534.3:p.Gln598Ter
ENST00000342245.9:c.1792C>T MANE Select	ENSP00000340409.4:p.Gln598Ter
NM_000543.4:c.1792C>T	NP_000534.3:p.Gln598Ter
NM_001007593.2:c.1789C>T	NP_001007594.2:p.Gln597Ter
NM_001007593.3:c.1789C>T	NP_001007594.2:p.Gln597Ter
NM_001318087.1:c.*285C>T	NP_001305016.1:n.*285C>T
NM_001318087.2:c.*285C>T	NP_001305016.1:n.*285C>T
NM_001318088.1:c.871C>T	NP_001305017.1:p.Gln291Ter
NM_001318088.2:c.871C>T	NP_001305017.1:p.Gln291Ter
NM_001365135.1:c.1660C>T	NP_001352064.1:p.Gln554Ter
NM_001365135.2:c.1660C>T	NP_001352064.1:p.Gln554Ter
NR_027400.2:n.1805C>T
NR_027400.3:n.1745C>T
NR_134502.1:n.1344C>T
NR_134502.2:n.1284C>T
ENST00000342245.8:c.1792C>T	ENSP00000340409.4:p.Gln598Ter
ENST00000526280.1:c.849C>T
ENST00000527275.5:c.1789C>T	ENSP00000435350.1:p.Gln597Ter
ENST00000531303.5:c.*643C>T	ENSP00000432625.1:n.*643C>T
ENST00000533123.5:c.*519C>T	ENSP00000435950.1:n.*519C>T
ENST00000534405.5:c.*623C>T	ENSP00000434353.1:n.*623C>T
XM_005253075.3:c.*285C>T	XP_005253132.1:n.*285C>T
XM_011520303.1:c.1660C>T	XP_011518605.1:p.Gln554Ter
XM_011520304.1:c.*285C>T	XP_011518606.1:n.*285C>T
XM_011520304.2:c.*285C>T	XP_011518606.1:n.*285C>T
XR_001747940.2:n.1977C>T
XR_002957158.1:n.2159C>T