Canonical Allele Identifier: CA1950146984
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6392484C= , CM000673.2:g.6392484C= GRCh38
NC_000011.9:g.6413714C= , CM000673.1:g.6413714C= GRCh37
NC_000011.8:g.6370290C= NCBI36
NG_011780.1:g.7060C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.1091+328C= MANE Select ENSP00000340409.4:n.1091+328C=
ENST00000342245.8:c.1091+328C= ENSP00000340409.4:n.1091+328C=
ENST00000526280.1:c.320+288C=
ENST00000527275.5:c.1088+328C= ENSP00000435350.1:n.1088+328C=
ENST00000531303.5:c.439-732C= ENSP00000432625.1:n.439-732C=
ENST00000533123.5:c.1091+328C= ENSP00000435950.1:n.1091+328C=
ENST00000534405.5:c.1131+288C= ENSP00000434353.1:n.1131+288C=
NM_000543.4:c.1091+328C= NP_000534.3:n.1091+328C=
NM_001007593.2:c.1088+328C= NP_001007594.2:n.1088+328C=
XM_005253075.3:c.1091+328C= XP_005253132.1:n.1091+328C=
XM_011520303.1:c.1131+288C= XP_011518605.1:n.1131+288C=
XM_011520304.1:c.1131+288C= XP_011518606.1:n.1131+288C=
XR_930886.1:n.1429+288C=
NM_001318087.1:c.1091+328C= NP_001305016.1:n.1091+328C=
NM_001318088.1:c.170+288C= NP_001305017.1:n.170+288C=
NM_001365135.1:c.1131+288C= NP_001352064.1:n.1131+288C=
NR_027400.2:n.1276+328C=
NR_134502.1:n.624-732C=
XM_011520304.2:c.1131+288C= XP_011518606.1:n.1131+288C=
XR_001747940.2:n.1256+288C=
XR_002957158.1:n.1256+288C=
NM_000543.5:c.1091+328C= MANE Select NP_000534.3:n.1091+328C=
NM_001007593.3:c.1088+328C= NP_001007594.2:n.1088+328C=
NM_001318087.2:c.1091+328C= NP_001305016.1:n.1091+328C=
NM_001318088.2:c.170+288C= NP_001305017.1:n.170+288C=
NM_001365135.2:c.1131+288C= NP_001352064.1:n.1131+288C=
NR_027400.3:n.1216+328C=
NR_134502.2:n.564-732C=