Canonical Allele Identifier: CA934767843

Gene: SMPD1

Linked Data

• gnomAD v3: 11-6392356-A-ATTTTTTTTTT
• gnomAD v4: 11-6392356-A-ATTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392356_6392357insTTTTTTTTTT , CM000673.2:g.6392356_6392357insTTTTTTTTTT	GRCh38
NC_000011.9:g.6413586_6413587insTTTTTTTTTT , CM000673.1:g.6413586_6413587insTTTTTTTTTT	GRCh37
NC_000011.8:g.6370162_6370163insTTTTTTTTTT	NCBI36
NG_011780.1:g.6932_6933insTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+200_1091+201insTTTTTTTTTT MANE Select	ENSP00000340409.4:n.1091+200_1091+201insTTTTTTTTTT
ENST00000342245.8:c.1091+200_1091+201insTTTTTTTTTT	ENSP00000340409.4:n.1091+200_1091+201insTTTTTTTTTT
ENST00000526280.1:c.320+160_320+161insTTTTTTTTTT
ENST00000527275.5:c.1088+200_1088+201insTTTTTTTTTT	ENSP00000435350.1:n.1088+200_1088+201insTTTTTTTTTT
ENST00000531303.5:c.438+853_438+854insTTTTTTTTTT	ENSP00000432625.1:n.438+853_438+854insTTTTTTTTTT
ENST00000533123.5:c.1091+200_1091+201insTTTTTTTTTT	ENSP00000435950.1:n.1091+200_1091+201insTTTTTTTTTT
ENST00000534405.5:c.1131+160_1131+161insTTTTTTTTTT	ENSP00000434353.1:n.1131+160_1131+161insTTTTTTTTTT
NM_000543.4:c.1091+200_1091+201insTTTTTTTTTT	NP_000534.3:n.1091+200_1091+201insTTTTTTTTTT
NM_001007593.2:c.1088+200_1088+201insTTTTTTTTTT	NP_001007594.2:n.1088+200_1088+201insTTTTTTTTTT
XM_005253075.3:c.1091+200_1091+201insTTTTTTTTTT	XP_005253132.1:n.1091+200_1091+201insTTTTTTTTTT
XM_011520303.1:c.1131+160_1131+161insTTTTTTTTTT	XP_011518605.1:n.1131+160_1131+161insTTTTTTTTTT
XM_011520304.1:c.1131+160_1131+161insTTTTTTTTTT	XP_011518606.1:n.1131+160_1131+161insTTTTTTTTTT
XR_930886.1:n.1429+160_1429+161insTTTTTTTTTT
NM_001318087.1:c.1091+200_1091+201insTTTTTTTTTT	NP_001305016.1:n.1091+200_1091+201insTTTTTTTTTT
NM_001318088.1:c.170+160_170+161insTTTTTTTTTT	NP_001305017.1:n.170+160_170+161insTTTTTTTTTT
NM_001365135.1:c.1131+160_1131+161insTTTTTTTTTT	NP_001352064.1:n.1131+160_1131+161insTTTTTTTTTT
NR_027400.2:n.1276+200_1276+201insTTTTTTTTTT
NR_134502.1:n.623+853_623+854insTTTTTTTTTT
XM_011520304.2:c.1131+160_1131+161insTTTTTTTTTT	XP_011518606.1:n.1131+160_1131+161insTTTTTTTTTT
XR_001747940.2:n.1256+160_1256+161insTTTTTTTTTT
XR_002957158.1:n.1256+160_1256+161insTTTTTTTTTT
NM_000543.5:c.1091+200_1091+201insTTTTTTTTTT MANE Select	NP_000534.3:n.1091+200_1091+201insTTTTTTTTTT
NM_001007593.3:c.1088+200_1088+201insTTTTTTTTTT	NP_001007594.2:n.1088+200_1088+201insTTTTTTTTTT
NM_001318087.2:c.1091+200_1091+201insTTTTTTTTTT	NP_001305016.1:n.1091+200_1091+201insTTTTTTTTTT
NM_001318088.2:c.170+160_170+161insTTTTTTTTTT	NP_001305017.1:n.170+160_170+161insTTTTTTTTTT
NM_001365135.2:c.1131+160_1131+161insTTTTTTTTTT	NP_001352064.1:n.1131+160_1131+161insTTTTTTTTTT
NR_027400.3:n.1216+200_1216+201insTTTTTTTTTT
NR_134502.2:n.563+853_563+854insTTTTTTTTTT