Canonical Allele Identifier: CA1950150508
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6394855G= , CM000673.2:g.6394855G= GRCh38
NC_000011.9:g.6416085G= , CM000673.1:g.6416085G= GRCh37
NC_000011.8:g.6372661G= NCBI36
NG_011780.1:g.9431G=
NG_029615.1:g.29560C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.*248G= MANE Select ENSP00000340409.4:n.*248G=
ENST00000342245.8:c.*248G= ENSP00000340409.4:n.*248G=
ENST00000526280.1:c.1201G=
ENST00000533123.5:c.*871G= ENSP00000435950.1:n.*871G=
ENST00000534405.5:c.*975G= ENSP00000434353.1:n.*975G=
NM_000543.4:c.*248G= NP_000534.3:n.*248G=
NM_001007593.2:c.*248G= NP_001007594.2:n.*248G=
XM_011520303.1:c.*248G= XP_011518605.1:n.*248G=
NM_001318087.1:c.*637G= NP_001305016.1:n.*637G=
NM_001318088.1:c.*248G= NP_001305017.1:n.*248G=
NM_001365135.1:c.*248G= NP_001352064.1:n.*248G=
NR_027400.2:n.2157G=
NR_134502.1:n.1696G=
XR_001747940.2:n.2329G=
XR_002957158.1:n.2511G=
NM_000543.5:c.*248G= MANE Select NP_000534.3:n.*248G=
NM_001007593.3:c.*248G= NP_001007594.2:n.*248G=
NM_001318087.2:c.*637G= NP_001305016.1:n.*637G=
NM_001318088.2:c.*248G= NP_001305017.1:n.*248G=
NM_001365135.2:c.*248G= NP_001352064.1:n.*248G=
NR_027400.3:n.2097G=
NR_134502.2:n.1636G=