Canonical Allele Identifier: CA2790302554

Gene: SMPD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392518_6392519insT , CM000673.2:g.6392518_6392519insT	GRCh38
NC_000011.9:g.6413748_6413749insT , CM000673.1:g.6413748_6413749insT	GRCh37
NC_000011.8:g.6370324_6370325insT	NCBI36
NG_011780.1:g.7094_7095insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+362_1091+363insT MANE Select	ENSP00000340409.4:n.1091+362_1091+363insT
ENST00000342245.8:c.1091+362_1091+363insT	ENSP00000340409.4:n.1091+362_1091+363insT
ENST00000526280.1:c.320+322_320+323insT
ENST00000527275.5:c.1088+362_1088+363insT	ENSP00000435350.1:n.1088+362_1088+363insT
ENST00000531303.5:c.439-698_439-697insT	ENSP00000432625.1:n.439-698_439-697insT
ENST00000533123.5:c.1091+362_1091+363insT	ENSP00000435950.1:n.1091+362_1091+363insT
ENST00000534405.5:c.1131+322_1131+323insT	ENSP00000434353.1:n.1131+322_1131+323insT
NM_000543.4:c.1091+362_1091+363insT	NP_000534.3:n.1091+362_1091+363insT
NM_001007593.2:c.1088+362_1088+363insT	NP_001007594.2:n.1088+362_1088+363insT
XM_005253075.3:c.1091+362_1091+363insT	XP_005253132.1:n.1091+362_1091+363insT
XM_011520303.1:c.1131+322_1131+323insT	XP_011518605.1:n.1131+322_1131+323insT
XM_011520304.1:c.1131+322_1131+323insT	XP_011518606.1:n.1131+322_1131+323insT
XR_930886.1:n.1429+322_1429+323insT
NM_001318087.1:c.1091+362_1091+363insT	NP_001305016.1:n.1091+362_1091+363insT
NM_001318088.1:c.170+322_170+323insT	NP_001305017.1:n.170+322_170+323insT
NM_001365135.1:c.1131+322_1131+323insT	NP_001352064.1:n.1131+322_1131+323insT
NR_027400.2:n.1276+362_1276+363insT
NR_134502.1:n.624-698_624-697insT
XM_011520304.2:c.1131+322_1131+323insT	XP_011518606.1:n.1131+322_1131+323insT
XR_001747940.2:n.1256+322_1256+323insT
XR_002957158.1:n.1256+322_1256+323insT
NM_000543.5:c.1091+362_1091+363insT MANE Select	NP_000534.3:n.1091+362_1091+363insT
NM_001007593.3:c.1088+362_1088+363insT	NP_001007594.2:n.1088+362_1088+363insT
NM_001318087.2:c.1091+362_1091+363insT	NP_001305016.1:n.1091+362_1091+363insT
NM_001318088.2:c.170+322_170+323insT	NP_001305017.1:n.170+322_170+323insT
NM_001365135.2:c.1131+322_1131+323insT	NP_001352064.1:n.1131+322_1131+323insT
NR_027400.3:n.1216+362_1216+363insT
NR_134502.2:n.564-698_564-697insT