Canonical Allele Identifier: CA2612222550

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6392328-G-GTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392328_6392329insTTT , CM000673.2:g.6392328_6392329insTTT	GRCh38
NC_000011.9:g.6413558_6413559insTTT , CM000673.1:g.6413558_6413559insTTT	GRCh37
NC_000011.8:g.6370134_6370135insTTT	NCBI36
NG_011780.1:g.6904_6905insTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+172_1091+173insTTT MANE Select	ENSP00000340409.4:n.1091+172_1091+173insTTT
ENST00000342245.8:c.1091+172_1091+173insTTT	ENSP00000340409.4:n.1091+172_1091+173insTTT
ENST00000526280.1:c.320+132_320+133insTTT
ENST00000527275.5:c.1088+172_1088+173insTTT	ENSP00000435350.1:n.1088+172_1088+173insTTT
ENST00000531303.5:c.438+825_438+826insTTT	ENSP00000432625.1:n.438+825_438+826insTTT
ENST00000533123.5:c.1091+172_1091+173insTTT	ENSP00000435950.1:n.1091+172_1091+173insTTT
ENST00000534405.5:c.1131+132_1131+133insTTT	ENSP00000434353.1:n.1131+132_1131+133insTTT
NM_000543.4:c.1091+172_1091+173insTTT	NP_000534.3:n.1091+172_1091+173insTTT
NM_001007593.2:c.1088+172_1088+173insTTT	NP_001007594.2:n.1088+172_1088+173insTTT
XM_005253075.3:c.1091+172_1091+173insTTT	XP_005253132.1:n.1091+172_1091+173insTTT
XM_011520303.1:c.1131+132_1131+133insTTT	XP_011518605.1:n.1131+132_1131+133insTTT
XM_011520304.1:c.1131+132_1131+133insTTT	XP_011518606.1:n.1131+132_1131+133insTTT
XR_930886.1:n.1429+132_1429+133insTTT
NM_001318087.1:c.1091+172_1091+173insTTT	NP_001305016.1:n.1091+172_1091+173insTTT
NM_001318088.1:c.170+132_170+133insTTT	NP_001305017.1:n.170+132_170+133insTTT
NM_001365135.1:c.1131+132_1131+133insTTT	NP_001352064.1:n.1131+132_1131+133insTTT
NR_027400.2:n.1276+172_1276+173insTTT
NR_134502.1:n.623+825_623+826insTTT
XM_011520304.2:c.1131+132_1131+133insTTT	XP_011518606.1:n.1131+132_1131+133insTTT
XR_001747940.2:n.1256+132_1256+133insTTT
XR_002957158.1:n.1256+132_1256+133insTTT
NM_000543.5:c.1091+172_1091+173insTTT MANE Select	NP_000534.3:n.1091+172_1091+173insTTT
NM_001007593.3:c.1088+172_1088+173insTTT	NP_001007594.2:n.1088+172_1088+173insTTT
NM_001318087.2:c.1091+172_1091+173insTTT	NP_001305016.1:n.1091+172_1091+173insTTT
NM_001318088.2:c.170+132_170+133insTTT	NP_001305017.1:n.170+132_170+133insTTT
NM_001365135.2:c.1131+132_1131+133insTTT	NP_001352064.1:n.1131+132_1131+133insTTT
NR_027400.3:n.1216+172_1216+173insTTT
NR_134502.2:n.563+825_563+826insTTT