Canonical Allele Identifier: CA1950145775
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6390799A= , CM000673.2:g.6390799A= GRCh38
NC_000011.9:g.6412029A= , CM000673.1:g.6412029A= GRCh37
NC_000011.8:g.6368605A= NCBI36
NG_011780.1:g.5375A=

Transcript Alleles

HGVS Amino-acid change
ENST00000342245.9:c.201A= MANE Select ENSP00000340409.4:p.Gln67=
ENST00000342245.8:c.201A= ENSP00000340409.4:p.Gln67=
ENST00000527275.5:c.201A= ENSP00000435350.1:p.Gln67=
ENST00000530395.1:c.-96+160A= ENSP00000431479.1:n.-96+160A=
ENST00000531303.5:c.201A= ENSP00000432625.1:p.Gln67=
ENST00000533123.5:c.201A= ENSP00000435950.1:p.Gln67=
ENST00000533196.1:n.360A=
ENST00000534405.5:c.201A= ENSP00000434353.1:p.Gln67=
NM_000543.4:c.201A= NP_000534.3:p.Gln67=
NM_001007593.2:c.201A= NP_001007594.2:p.Gln67=
XM_005253075.3:c.201A= XP_005253132.1:p.Gln67=
XM_011520303.1:c.201A= XP_011518605.1:p.Gln67=
XM_011520304.1:c.201A= XP_011518606.1:p.Gln67=
XR_930886.1:n.499A=
NM_001318087.1:c.201A= NP_001305016.1:p.Gln67=
NM_001318088.1:c.-761A= NP_001305017.1:n.-761A=
NM_001365135.1:c.201A= NP_001352064.1:p.Gln67=
NR_027400.2:n.386A=
NR_134502.1:n.386A=
XM_011520304.2:c.201A= XP_011518606.1:p.Gln67=
XR_001747940.2:n.326A=
XR_002957158.1:n.326A=
NM_000543.5:c.201A= MANE Select NP_000534.3:p.Gln67=
NM_001007593.3:c.201A= NP_001007594.2:p.Gln67=
NM_001318087.2:c.201A= NP_001305016.1:p.Gln67=
NM_001318088.2:c.-761A= NP_001305017.1:n.-761A=
NM_001365135.2:c.201A= NP_001352064.1:p.Gln67=
NR_027400.3:n.326A=
NR_134502.2:n.326A=