Canonical Allele Identifier: CA379371213
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6391946A>G , CM000673.2:g.6391946A>G GRCh38
NC_000011.9:g.6413176A>G , CM000673.1:g.6413176A>G GRCh37
NC_000011.8:g.6369752A>G NCBI36
NG_011780.1:g.6522A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000543.5:c.881A>G MANE Select NP_000534.3:p.Gln294Arg
ENST00000342245.9:c.881A>G MANE Select ENSP00000340409.4:p.Gln294Arg
NM_000543.4:c.881A>G NP_000534.3:p.Gln294Arg
NM_001007593.2:c.878A>G NP_001007594.2:p.Gln293Arg
NM_001007593.3:c.878A>G NP_001007594.2:p.Gln293Arg
NM_001318087.1:c.881A>G NP_001305016.1:p.Gln294Arg
NM_001318087.2:c.881A>G NP_001305016.1:p.Gln294Arg
NM_001318088.1:c.-81A>G NP_001305017.1:n.-81A>G
NM_001318088.2:c.-81A>G NP_001305017.1:n.-81A>G
NM_001365135.1:c.881A>G NP_001352064.1:p.Gln294Arg
NM_001365135.2:c.881A>G NP_001352064.1:p.Gln294Arg
NR_027400.2:n.1066A>G
NR_027400.3:n.1006A>G
NR_134502.1:n.623+443A>G
NR_134502.2:n.563+443A>G
ENST00000342245.8:c.881A>G ENSP00000340409.4:p.Gln294Arg
ENST00000526280.1:c.70A>G
ENST00000527275.5:c.878A>G ENSP00000435350.1:p.Gln293Arg
ENST00000530395.1:c.62A>G ENSP00000431479.1:p.Gln21Arg
ENST00000531303.5:c.438+443A>G ENSP00000432625.1:n.438+443A>G
ENST00000533123.5:c.881A>G ENSP00000435950.1:p.Gln294Arg
ENST00000533196.1:n.375-60A>G
ENST00000534405.5:c.881A>G ENSP00000434353.1:p.Gln294Arg
XM_005253075.3:c.881A>G XP_005253132.1:p.Gln294Arg
XM_011520303.1:c.881A>G XP_011518605.1:p.Gln294Arg
XM_011520304.1:c.881A>G XP_011518606.1:p.Gln294Arg
XM_011520304.2:c.881A>G XP_011518606.1:p.Gln294Arg
XR_001747940.2:n.1006A>G
XR_002957158.1:n.1006A>G
XR_930886.1:n.1179A>G