Canonical Allele Identifier: CA1950149283

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394163_6394164delinsTC , CM000673.2:g.6394163_6394164delinsTC	GRCh38
NC_000011.9:g.6415393_6415394delinsTC , CM000673.1:g.6415393_6415394delinsTC	GRCh37
NC_000011.8:g.6371969_6371970delinsTC	NCBI36
NG_011780.1:g.8739_8740delinsTC
NG_029615.1:g.30251_30252delinsGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1487-35_1487-34delinsTC MANE Select	ENSP00000340409.4:n.1487-35_1487-34delinsTC
ENST00000342245.8:c.1487-35_1487-34delinsTC	ENSP00000340409.4:n.1487-35_1487-34delinsTC
ENST00000526280.1:c.544-35_544-34delinsTC
ENST00000527275.5:c.1484-35_1484-34delinsTC	ENSP00000435350.1:n.1484-35_1484-34delinsTC
ENST00000531303.5:c.*318-15_*318-14delinsTC	ENSP00000432625.1:n.*318-15_*318-14delinsTC
ENST00000531336.1:n.440_441delinsTC
ENST00000533123.5:c.*214-35_*214-34delinsTC	ENSP00000435950.1:n.*214-35_*214-34delinsTC
ENST00000534405.5:c.*318-35_*318-34delinsTC	ENSP00000434353.1:n.*318-35_*318-34delinsTC
NM_000543.4:c.1487-35_1487-34delinsTC	NP_000534.3:n.1487-35_1487-34delinsTC
NM_001007593.2:c.1484-35_1484-34delinsTC	NP_001007594.2:n.1484-35_1484-34delinsTC
XM_005253075.3:c.1487-15_1487-14delinsTC	XP_005253132.1:n.1487-15_1487-14delinsTC
XM_011520303.1:c.1355-35_1355-34delinsTC	XP_011518605.1:n.1355-35_1355-34delinsTC
XM_011520304.1:c.1355-15_1355-14delinsTC	XP_011518606.1:n.1355-15_1355-14delinsTC
NM_001318087.1:c.1487-15_1487-14delinsTC	NP_001305016.1:n.1487-15_1487-14delinsTC
NM_001318088.1:c.566-35_566-34delinsTC	NP_001305017.1:n.566-35_566-34delinsTC
NM_001365135.1:c.1355-35_1355-34delinsTC	NP_001352064.1:n.1355-35_1355-34delinsTC
NR_027400.2:n.1500-35_1500-34delinsTC
NR_134502.1:n.1019-15_1019-14delinsTC
XM_011520304.2:c.1355-15_1355-14delinsTC	XP_011518606.1:n.1355-15_1355-14delinsTC
XR_001747940.2:n.1652-15_1652-14delinsTC
XR_002957158.1:n.1854-35_1854-34delinsTC
NM_000543.5:c.1487-35_1487-34delinsTC MANE Select	NP_000534.3:n.1487-35_1487-34delinsTC
NM_001007593.3:c.1484-35_1484-34delinsTC	NP_001007594.2:n.1484-35_1484-34delinsTC
NM_001318087.2:c.1487-15_1487-14delinsTC	NP_001305016.1:n.1487-15_1487-14delinsTC
NM_001318088.2:c.566-35_566-34delinsTC	NP_001305017.1:n.566-35_566-34delinsTC
NM_001365135.2:c.1355-35_1355-34delinsTC	NP_001352064.1:n.1355-35_1355-34delinsTC
NR_027400.3:n.1440-35_1440-34delinsTC
NR_134502.2:n.959-15_959-14delinsTC