Canonical Allele Identifier: CA217302571

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394208_6394209delinsAC , CM000673.2:g.6394208_6394209delinsAC	GRCh38
NC_000011.9:g.6415438_6415439delinsAC , CM000673.1:g.6415438_6415439delinsAC	GRCh37
NC_000011.8:g.6372014_6372015delinsAC	NCBI36
NG_011780.1:g.8784_8785delinsAC
NG_029615.1:g.30206_30207delinsGT

Transcript Alleles

HGVS	Amino-acid Change
NM_000543.5:c.1497_1498delinsAC MANE Select	NP_000534.3:p.Tyr500His
ENST00000342245.9:c.1497_1498delinsAC MANE Select	ENSP00000340409.4:p.Tyr500His
NM_000543.4:c.1497_1498delinsAC	NP_000534.3:p.Tyr500His
NM_001007593.2:c.1494_1495delinsAC	NP_001007594.2:p.Tyr499His
NM_001007593.3:c.1494_1495delinsAC	NP_001007594.2:p.Tyr499His
NM_001318087.1:c.1517_1518delinsAC	NP_001305016.1:p.Cys506Tyr
NM_001318087.2:c.1517_1518delinsAC	NP_001305016.1:p.Cys506Tyr
NM_001318088.1:c.576_577delinsAC	NP_001305017.1:p.Tyr193His
NM_001318088.2:c.576_577delinsAC	NP_001305017.1:p.Tyr193His
NM_001365135.1:c.1365_1366delinsAC	NP_001352064.1:p.Tyr456His
NM_001365135.2:c.1365_1366delinsAC	NP_001352064.1:p.Tyr456His
NR_027400.2:n.1510_1511delinsAC
NR_027400.3:n.1450_1451delinsAC
NR_134502.1:n.1049_1050delinsAC
NR_134502.2:n.989_990delinsAC
ENST00000342245.8:c.1497_1498delinsAC	ENSP00000340409.4:p.Tyr500His
ENST00000526280.1:c.554_555delinsAC
ENST00000527275.5:c.1494_1495delinsAC	ENSP00000435350.1:p.Tyr499His
ENST00000531303.5:c.*348_*349delinsAC	ENSP00000432625.1:n.*348_*349delinsAC
ENST00000531336.1:n.485_486delinsAC
ENST00000533123.5:c.*224_*225delinsAC	ENSP00000435950.1:n.*224_*225delinsAC
ENST00000534405.5:c.*328_*329delinsAC	ENSP00000434353.1:n.*328_*329delinsAC
XM_005253075.3:c.1517_1518delinsAC	XP_005253132.1:p.Cys506Tyr
XM_011520303.1:c.1365_1366delinsAC	XP_011518605.1:p.Tyr456His
XM_011520304.1:c.1385_1386delinsAC	XP_011518606.1:p.Cys462Tyr
XM_011520304.2:c.1385_1386delinsAC	XP_011518606.1:p.Cys462Tyr
XR_001747940.2:n.1682_1683delinsAC
XR_002957158.1:n.1864_1865delinsAC