Canonical Allele Identifier: CA597263819
Gene: SMPD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6392362_6392363insTTTTTTT , CM000673.2:g.6392362_6392363insTTTTTTT GRCh38
NC_000011.9:g.6413592_6413593insTTTTTTT , CM000673.1:g.6413592_6413593insTTTTTTT GRCh37
NC_000011.8:g.6370168_6370169insTTTTTTT NCBI36
NG_011780.1:g.6938_6939insTTTTTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000342245.9:c.1091+206_1091+207insTTTTTTT MANE Select ENSP00000340409.4:n.1091+206_1091+207insTTTTTTT
ENST00000342245.8:c.1091+206_1091+207insTTTTTTT ENSP00000340409.4:n.1091+206_1091+207insTTTTTTT
ENST00000526280.1:c.320+166_320+167insTTTTTTT
ENST00000527275.5:c.1088+206_1088+207insTTTTTTT ENSP00000435350.1:n.1088+206_1088+207insTTTTTTT
ENST00000531303.5:c.439-854_439-853insTTTTTTT ENSP00000432625.1:n.439-854_439-853insTTTTTTT
ENST00000533123.5:c.1091+206_1091+207insTTTTTTT ENSP00000435950.1:n.1091+206_1091+207insTTTTTTT
ENST00000534405.5:c.1131+166_1131+167insTTTTTTT ENSP00000434353.1:n.1131+166_1131+167insTTTTTTT
NM_000543.4:c.1091+206_1091+207insTTTTTTT NP_000534.3:n.1091+206_1091+207insTTTTTTT
NM_001007593.2:c.1088+206_1088+207insTTTTTTT NP_001007594.2:n.1088+206_1088+207insTTTTTTT
XM_005253075.3:c.1091+206_1091+207insTTTTTTT XP_005253132.1:n.1091+206_1091+207insTTTTTTT
XM_011520303.1:c.1131+166_1131+167insTTTTTTT XP_011518605.1:n.1131+166_1131+167insTTTTTTT
XM_011520304.1:c.1131+166_1131+167insTTTTTTT XP_011518606.1:n.1131+166_1131+167insTTTTTTT
XR_930886.1:n.1429+166_1429+167insTTTTTTT
NM_001318087.1:c.1091+206_1091+207insTTTTTTT NP_001305016.1:n.1091+206_1091+207insTTTTTTT
NM_001318088.1:c.170+166_170+167insTTTTTTT NP_001305017.1:n.170+166_170+167insTTTTTTT
NM_001365135.1:c.1131+166_1131+167insTTTTTTT NP_001352064.1:n.1131+166_1131+167insTTTTTTT
NR_027400.2:n.1276+206_1276+207insTTTTTTT
NR_134502.1:n.624-854_624-853insTTTTTTT
XM_011520304.2:c.1131+166_1131+167insTTTTTTT XP_011518606.1:n.1131+166_1131+167insTTTTTTT
XR_001747940.2:n.1256+166_1256+167insTTTTTTT
XR_002957158.1:n.1256+166_1256+167insTTTTTTT
NM_000543.5:c.1091+206_1091+207insTTTTTTT MANE Select NP_000534.3:n.1091+206_1091+207insTTTTTTT
NM_001007593.3:c.1088+206_1088+207insTTTTTTT NP_001007594.2:n.1088+206_1088+207insTTTTTTT
NM_001318087.2:c.1091+206_1091+207insTTTTTTT NP_001305016.1:n.1091+206_1091+207insTTTTTTT
NM_001318088.2:c.170+166_170+167insTTTTTTT NP_001305017.1:n.170+166_170+167insTTTTTTT
NM_001365135.2:c.1131+166_1131+167insTTTTTTT NP_001352064.1:n.1131+166_1131+167insTTTTTTT
NR_027400.3:n.1216+206_1216+207insTTTTTTT
NR_134502.2:n.564-854_564-853insTTTTTTT