Canonical Allele Identifier: CA934767909

Gene: SMPD1

Linked Data

• gnomAD v3: 11-6392362-T-TTTTTTTTTA
• gnomAD v4: 11-6392362-T-TTTTTTTTTA

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392362_6392363insTTTTTTTTA , CM000673.2:g.6392362_6392363insTTTTTTTTA	GRCh38
NC_000011.9:g.6413592_6413593insTTTTTTTTA , CM000673.1:g.6413592_6413593insTTTTTTTTA	GRCh37
NC_000011.8:g.6370168_6370169insTTTTTTTTA	NCBI36
NG_011780.1:g.6938_6939insTTTTTTTTA

Transcript Alleles

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