Canonical Allele Identifier: CA1950149348

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394208_6394209delinsGT , CM000673.2:g.6394208_6394209delinsGT	GRCh38
NC_000011.9:g.6415438_6415439delinsGT , CM000673.1:g.6415438_6415439delinsGT	GRCh37
NC_000011.8:g.6372014_6372015delinsGT	NCBI36
NG_011780.1:g.8784_8785delinsGT
NG_029615.1:g.30206_30207delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1497_1498delinsGT MANE Select	ENSP00000340409.4:p.Val499=
ENST00000342245.8:c.1497_1498delinsGT	ENSP00000340409.4:p.Val499=
ENST00000526280.1:c.554_555delinsGT
ENST00000527275.5:c.1494_1495delinsGT	ENSP00000435350.1:p.Val498=
ENST00000531303.5:c.*348_*349delinsGT	ENSP00000432625.1:n.*348_*349delinsGT
ENST00000531336.1:n.485_486delinsGT
ENST00000533123.5:c.*224_*225delinsGT	ENSP00000435950.1:n.*224_*225delinsGT
ENST00000534405.5:c.*328_*329delinsGT	ENSP00000434353.1:n.*328_*329delinsGT
NM_000543.4:c.1497_1498delinsGT	NP_000534.3:p.Val499=
NM_001007593.2:c.1494_1495delinsGT	NP_001007594.2:p.Val498=
XM_005253075.3:c.1517_1518delinsGT	XP_005253132.1:p.Cys506=
XM_011520303.1:c.1365_1366delinsGT	XP_011518605.1:p.Val455=
XM_011520304.1:c.1385_1386delinsGT	XP_011518606.1:p.Cys462=
NM_001318087.1:c.1517_1518delinsGT	NP_001305016.1:p.Cys506=
NM_001318088.1:c.576_577delinsGT	NP_001305017.1:p.Val192=
NM_001365135.1:c.1365_1366delinsGT	NP_001352064.1:p.Val455=
NR_027400.2:n.1510_1511delinsGT
NR_134502.1:n.1049_1050delinsGT
XM_011520304.2:c.1385_1386delinsGT	XP_011518606.1:p.Cys462=
XR_001747940.2:n.1682_1683delinsGT
XR_002957158.1:n.1864_1865delinsGT
NM_000543.5:c.1497_1498delinsGT MANE Select	NP_000534.3:p.Val499=
NM_001007593.3:c.1494_1495delinsGT	NP_001007594.2:p.Val498=
NM_001318087.2:c.1517_1518delinsGT	NP_001305016.1:p.Cys506=
NM_001318088.2:c.576_577delinsGT	NP_001305017.1:p.Val192=
NM_001365135.2:c.1365_1366delinsGT	NP_001352064.1:p.Val455=
NR_027400.3:n.1450_1451delinsGT
NR_134502.2:n.989_990delinsGT