Canonical Allele Identifier: CA1950150397
Gene: SMPD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6394738A= , CM000673.2:g.6394738A= GRCh38
NC_000011.9:g.6415968A= , CM000673.1:g.6415968A= GRCh37
NC_000011.8:g.6372544A= NCBI36
NG_011780.1:g.9314A=
NG_029615.1:g.29677T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.*131A= MANE Select ENSP00000340409.4:n.*131A=
ENST00000342245.8:c.*131A= ENSP00000340409.4:n.*131A=
ENST00000526280.1:c.1084A=
ENST00000527275.5:c.*131A= ENSP00000435350.1:n.*131A=
ENST00000531303.5:c.*878A= ENSP00000432625.1:n.*878A=
ENST00000533123.5:c.*754A= ENSP00000435950.1:n.*754A=
ENST00000534405.5:c.*858A= ENSP00000434353.1:n.*858A=
NM_000543.4:c.*131A= NP_000534.3:n.*131A=
NM_001007593.2:c.*131A= NP_001007594.2:n.*131A=
XM_011520303.1:c.*131A= XP_011518605.1:n.*131A=
NM_001318087.1:c.*520A= NP_001305016.1:n.*520A=
NM_001318088.1:c.*131A= NP_001305017.1:n.*131A=
NM_001365135.1:c.*131A= NP_001352064.1:n.*131A=
NR_027400.2:n.2040A=
NR_134502.1:n.1579A=
XR_001747940.2:n.2212A=
XR_002957158.1:n.2394A=
NM_000543.5:c.*131A= MANE Select NP_000534.3:n.*131A=
NM_001007593.3:c.*131A= NP_001007594.2:n.*131A=
NM_001318087.2:c.*520A= NP_001305016.1:n.*520A=
NM_001318088.2:c.*131A= NP_001305017.1:n.*131A=
NM_001365135.2:c.*131A= NP_001352064.1:n.*131A=
NR_027400.3:n.1980A=
NR_134502.2:n.1519A=