Canonical Allele Identifier: CA934767780

Gene: SMPD1

Linked Data

• gnomAD v3: 11-6392352-G-GTTTTTTTTTTTT
• gnomAD v4: 11-6392352-G-GTTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392355_6392356insTTTTTTTTTTTT , CM000673.2:g.6392355_6392356insTTTTTTTTTTTT	GRCh38
NC_000011.9:g.6413585_6413586insTTTTTTTTTTTT , CM000673.1:g.6413585_6413586insTTTTTTTTTTTT	GRCh37
NC_000011.8:g.6370161_6370162insTTTTTTTTTTTT	NCBI36
NG_011780.1:g.6931_6932insTTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+199_1091+200insTTTTTTTTTTTT MANE Select	ENSP00000340409.4:n.1091+199_1091+200insTTTTTTTTTTTT
ENST00000342245.8:c.1091+199_1091+200insTTTTTTTTTTTT	ENSP00000340409.4:n.1091+199_1091+200insTTTTTTTTTTTT
ENST00000526280.1:c.320+159_320+160insTTTTTTTTTTTT
ENST00000527275.5:c.1088+199_1088+200insTTTTTTTTTTTT	ENSP00000435350.1:n.1088+199_1088+200insTTTTTTTTTTTT
ENST00000531303.5:c.438+852_438+853insTTTTTTTTTTTT	ENSP00000432625.1:n.438+852_438+853insTTTTTTTTTTTT
ENST00000533123.5:c.1091+199_1091+200insTTTTTTTTTTTT	ENSP00000435950.1:n.1091+199_1091+200insTTTTTTTTTTTT
ENST00000534405.5:c.1131+159_1131+160insTTTTTTTTTTTT	ENSP00000434353.1:n.1131+159_1131+160insTTTTTTTTTTTT
NM_000543.4:c.1091+199_1091+200insTTTTTTTTTTTT	NP_000534.3:n.1091+199_1091+200insTTTTTTTTTTTT
NM_001007593.2:c.1088+199_1088+200insTTTTTTTTTTTT	NP_001007594.2:n.1088+199_1088+200insTTTTTTTTTTTT
XM_005253075.3:c.1091+199_1091+200insTTTTTTTTTTTT	XP_005253132.1:n.1091+199_1091+200insTTTTTTTTTTTT
XM_011520303.1:c.1131+159_1131+160insTTTTTTTTTTTT	XP_011518605.1:n.1131+159_1131+160insTTTTTTTTTTTT
XM_011520304.1:c.1131+159_1131+160insTTTTTTTTTTTT	XP_011518606.1:n.1131+159_1131+160insTTTTTTTTTTTT
XR_930886.1:n.1429+159_1429+160insTTTTTTTTTTTT
NM_001318087.1:c.1091+199_1091+200insTTTTTTTTTTTT	NP_001305016.1:n.1091+199_1091+200insTTTTTTTTTTTT
NM_001318088.1:c.170+159_170+160insTTTTTTTTTTTT	NP_001305017.1:n.170+159_170+160insTTTTTTTTTTTT
NM_001365135.1:c.1131+159_1131+160insTTTTTTTTTTTT	NP_001352064.1:n.1131+159_1131+160insTTTTTTTTTTTT
NR_027400.2:n.1276+199_1276+200insTTTTTTTTTTTT
NR_134502.1:n.623+852_623+853insTTTTTTTTTTTT
XM_011520304.2:c.1131+159_1131+160insTTTTTTTTTTTT	XP_011518606.1:n.1131+159_1131+160insTTTTTTTTTTTT
XR_001747940.2:n.1256+159_1256+160insTTTTTTTTTTTT
XR_002957158.1:n.1256+159_1256+160insTTTTTTTTTTTT
NM_000543.5:c.1091+199_1091+200insTTTTTTTTTTTT MANE Select	NP_000534.3:n.1091+199_1091+200insTTTTTTTTTTTT
NM_001007593.3:c.1088+199_1088+200insTTTTTTTTTTTT	NP_001007594.2:n.1088+199_1088+200insTTTTTTTTTTTT
NM_001318087.2:c.1091+199_1091+200insTTTTTTTTTTTT	NP_001305016.1:n.1091+199_1091+200insTTTTTTTTTTTT
NM_001318088.2:c.170+159_170+160insTTTTTTTTTTTT	NP_001305017.1:n.170+159_170+160insTTTTTTTTTTTT
NM_001365135.2:c.1131+159_1131+160insTTTTTTTTTTTT	NP_001352064.1:n.1131+159_1131+160insTTTTTTTTTTTT
NR_027400.3:n.1216+199_1216+200insTTTTTTTTTTTT
NR_134502.2:n.563+852_563+853insTTTTTTTTTTTT