Canonical Allele Identifier: CA1950149296

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394181_6394182delinsGC , CM000673.2:g.6394181_6394182delinsGC	GRCh38
NC_000011.9:g.6415411_6415412delinsGC , CM000673.1:g.6415411_6415412delinsGC	GRCh37
NC_000011.8:g.6371987_6371988delinsGC	NCBI36
NG_011780.1:g.8757_8758delinsGC
NG_029615.1:g.30233_30234delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1487-17_1487-16delinsGC MANE Select	ENSP00000340409.4:n.1487-17_1487-16delinsGC
ENST00000342245.8:c.1487-17_1487-16delinsGC	ENSP00000340409.4:n.1487-17_1487-16delinsGC
ENST00000526280.1:c.544-17_544-16delinsGC
ENST00000527275.5:c.1484-17_1484-16delinsGC	ENSP00000435350.1:n.1484-17_1484-16delinsGC
ENST00000531303.5:c.*321_*322delinsGC	ENSP00000432625.1:n.*321_*322delinsGC
ENST00000531336.1:n.458_459delinsGC
ENST00000533123.5:c.*214-17_*214-16delinsGC	ENSP00000435950.1:n.*214-17_*214-16delinsGC
ENST00000534405.5:c.*318-17_*318-16delinsGC	ENSP00000434353.1:n.*318-17_*318-16delinsGC
NM_000543.4:c.1487-17_1487-16delinsGC	NP_000534.3:n.1487-17_1487-16delinsGC
NM_001007593.2:c.1484-17_1484-16delinsGC	NP_001007594.2:n.1484-17_1484-16delinsGC
XM_005253075.3:c.1490_1491delinsGC	XP_005253132.1:p.Ser497=
XM_011520303.1:c.1355-17_1355-16delinsGC	XP_011518605.1:n.1355-17_1355-16delinsGC
XM_011520304.1:c.1358_1359delinsGC	XP_011518606.1:p.Ser453=
NM_001318087.1:c.1490_1491delinsGC	NP_001305016.1:p.Ser497=
NM_001318088.1:c.566-17_566-16delinsGC	NP_001305017.1:n.566-17_566-16delinsGC
NM_001365135.1:c.1355-17_1355-16delinsGC	NP_001352064.1:n.1355-17_1355-16delinsGC
NR_027400.2:n.1500-17_1500-16delinsGC
NR_134502.1:n.1022_1023delinsGC
XM_011520304.2:c.1358_1359delinsGC	XP_011518606.1:p.Ser453=
XR_001747940.2:n.1655_1656delinsGC
XR_002957158.1:n.1854-17_1854-16delinsGC
NM_000543.5:c.1487-17_1487-16delinsGC MANE Select	NP_000534.3:n.1487-17_1487-16delinsGC
NM_001007593.3:c.1484-17_1484-16delinsGC	NP_001007594.2:n.1484-17_1484-16delinsGC
NM_001318087.2:c.1490_1491delinsGC	NP_001305016.1:p.Ser497=
NM_001318088.2:c.566-17_566-16delinsGC	NP_001305017.1:n.566-17_566-16delinsGC
NM_001365135.2:c.1355-17_1355-16delinsGC	NP_001352064.1:n.1355-17_1355-16delinsGC
NR_027400.3:n.1440-17_1440-16delinsGC
NR_134502.2:n.962_963delinsGC