Canonical Allele Identifier: CA3003109633

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393566_6393567insA , CM000673.2:g.6393566_6393567insA	GRCh38
NC_000011.9:g.6414796_6414797insA , CM000673.1:g.6414796_6414797insA	GRCh37
NC_000011.8:g.6371372_6371373insA	NCBI36
NG_011780.1:g.8142_8143insA
NG_029615.1:g.30848_30849insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1264-51_1264-50insA MANE Select	ENSP00000340409.4:n.1264-51_1264-50insA
ENST00000342245.8:c.1264-51_1264-50insA	ENSP00000340409.4:n.1264-51_1264-50insA
ENST00000526280.1:c.321-51_321-50insA
ENST00000527275.5:c.1261-51_1261-50insA	ENSP00000435350.1:n.1261-51_1261-50insA
ENST00000531303.5:c.*95-51_*95-50insA	ENSP00000432625.1:n.*95-51_*95-50insA
ENST00000531336.1:n.96-51_96-50insA
ENST00000532367.1:n.49_50insA
ENST00000533123.5:c.1092-51_1092-50insA	ENSP00000435950.1:n.1092-51_1092-50insA
ENST00000534405.5:c.*95-51_*95-50insA	ENSP00000434353.1:n.*95-51_*95-50insA
NM_000543.4:c.1264-51_1264-50insA	NP_000534.3:n.1264-51_1264-50insA
NM_001007593.2:c.1261-51_1261-50insA	NP_001007594.2:n.1261-51_1261-50insA
XM_005253075.3:c.1264-51_1264-50insA	XP_005253132.1:n.1264-51_1264-50insA
XM_011520303.1:c.1132-51_1132-50insA	XP_011518605.1:n.1132-51_1132-50insA
XM_011520304.1:c.1132-51_1132-50insA	XP_011518606.1:n.1132-51_1132-50insA
XR_930886.1:n.1602-51_1602-50insA
NM_001318087.1:c.1264-51_1264-50insA	NP_001305016.1:n.1264-51_1264-50insA
NM_001318088.1:c.343-51_343-50insA	NP_001305017.1:n.343-51_343-50insA
NM_001365135.1:c.1132-51_1132-50insA	NP_001352064.1:n.1132-51_1132-50insA
NR_027400.2:n.1277-51_1277-50insA
NR_134502.1:n.796-51_796-50insA
XM_011520304.2:c.1132-51_1132-50insA	XP_011518606.1:n.1132-51_1132-50insA
XR_001747940.2:n.1429-51_1429-50insA
XR_002957158.1:n.1429-51_1429-50insA
NM_000543.5:c.1264-51_1264-50insA MANE Select	NP_000534.3:n.1264-51_1264-50insA
NM_001007593.3:c.1261-51_1261-50insA	NP_001007594.2:n.1261-51_1261-50insA
NM_001318087.2:c.1264-51_1264-50insA	NP_001305016.1:n.1264-51_1264-50insA
NM_001318088.2:c.343-51_343-50insA	NP_001305017.1:n.343-51_343-50insA
NM_001365135.2:c.1132-51_1132-50insA	NP_001352064.1:n.1132-51_1132-50insA
NR_027400.3:n.1217-51_1217-50insA
NR_134502.2:n.736-51_736-50insA