Canonical Allele Identifier: CA934767889

Gene: SMPD1

Linked Data

• gnomAD v3: 11-6392357-G-GTTTTTTTTTTT
• gnomAD v4: 11-6392357-G-GTTTTTTTTTTT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392362_6392363insTTTTTTTTTTT , CM000673.2:g.6392362_6392363insTTTTTTTTTTT	GRCh38
NC_000011.9:g.6413592_6413593insTTTTTTTTTTT , CM000673.1:g.6413592_6413593insTTTTTTTTTTT	GRCh37
NC_000011.8:g.6370168_6370169insTTTTTTTTTTT	NCBI36
NG_011780.1:g.6938_6939insTTTTTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+206_1091+207insTTTTTTTTTTT MANE Select	ENSP00000340409.4:n.1091+206_1091+207insTTTTTTTTTTT
ENST00000342245.8:c.1091+206_1091+207insTTTTTTTTTTT	ENSP00000340409.4:n.1091+206_1091+207insTTTTTTTTTTT
ENST00000526280.1:c.320+166_320+167insTTTTTTTTTTT
ENST00000527275.5:c.1088+206_1088+207insTTTTTTTTTTT	ENSP00000435350.1:n.1088+206_1088+207insTTTTTTTTTTT
ENST00000531303.5:c.439-854_439-853insTTTTTTTTTTT	ENSP00000432625.1:n.439-854_439-853insTTTTTTTTTTT
ENST00000533123.5:c.1091+206_1091+207insTTTTTTTTTTT	ENSP00000435950.1:n.1091+206_1091+207insTTTTTTTTTTT
ENST00000534405.5:c.1131+166_1131+167insTTTTTTTTTTT	ENSP00000434353.1:n.1131+166_1131+167insTTTTTTTTTTT
NM_000543.4:c.1091+206_1091+207insTTTTTTTTTTT	NP_000534.3:n.1091+206_1091+207insTTTTTTTTTTT
NM_001007593.2:c.1088+206_1088+207insTTTTTTTTTTT	NP_001007594.2:n.1088+206_1088+207insTTTTTTTTTTT
XM_005253075.3:c.1091+206_1091+207insTTTTTTTTTTT	XP_005253132.1:n.1091+206_1091+207insTTTTTTTTTTT
XM_011520303.1:c.1131+166_1131+167insTTTTTTTTTTT	XP_011518605.1:n.1131+166_1131+167insTTTTTTTTTTT
XM_011520304.1:c.1131+166_1131+167insTTTTTTTTTTT	XP_011518606.1:n.1131+166_1131+167insTTTTTTTTTTT
XR_930886.1:n.1429+166_1429+167insTTTTTTTTTTT
NM_001318087.1:c.1091+206_1091+207insTTTTTTTTTTT	NP_001305016.1:n.1091+206_1091+207insTTTTTTTTTTT
NM_001318088.1:c.170+166_170+167insTTTTTTTTTTT	NP_001305017.1:n.170+166_170+167insTTTTTTTTTTT
NM_001365135.1:c.1131+166_1131+167insTTTTTTTTTTT	NP_001352064.1:n.1131+166_1131+167insTTTTTTTTTTT
NR_027400.2:n.1276+206_1276+207insTTTTTTTTTTT
NR_134502.1:n.624-854_624-853insTTTTTTTTTTT
XM_011520304.2:c.1131+166_1131+167insTTTTTTTTTTT	XP_011518606.1:n.1131+166_1131+167insTTTTTTTTTTT
XR_001747940.2:n.1256+166_1256+167insTTTTTTTTTTT
XR_002957158.1:n.1256+166_1256+167insTTTTTTTTTTT
NM_000543.5:c.1091+206_1091+207insTTTTTTTTTTT MANE Select	NP_000534.3:n.1091+206_1091+207insTTTTTTTTTTT
NM_001007593.3:c.1088+206_1088+207insTTTTTTTTTTT	NP_001007594.2:n.1088+206_1088+207insTTTTTTTTTTT
NM_001318087.2:c.1091+206_1091+207insTTTTTTTTTTT	NP_001305016.1:n.1091+206_1091+207insTTTTTTTTTTT
NM_001318088.2:c.170+166_170+167insTTTTTTTTTTT	NP_001305017.1:n.170+166_170+167insTTTTTTTTTTT
NM_001365135.2:c.1131+166_1131+167insTTTTTTTTTTT	NP_001352064.1:n.1131+166_1131+167insTTTTTTTTTTT
NR_027400.3:n.1216+206_1216+207insTTTTTTTTTTT
NR_134502.2:n.564-854_564-853insTTTTTTTTTTT