Canonical Allele Identifier: CA2612222519

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6392318-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6392318G>C , CM000673.2:g.6392318G>C	GRCh38
NC_000011.9:g.6413548G>C , CM000673.1:g.6413548G>C	GRCh37
NC_000011.8:g.6370124G>C	NCBI36
NG_011780.1:g.6894G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1091+162G>C MANE Select	ENSP00000340409.4:n.1091+162G>C
ENST00000342245.8:c.1091+162G>C	ENSP00000340409.4:n.1091+162G>C
ENST00000526280.1:c.320+122G>C
ENST00000527275.5:c.1088+162G>C	ENSP00000435350.1:n.1088+162G>C
ENST00000531303.5:c.438+815G>C	ENSP00000432625.1:n.438+815G>C
ENST00000533123.5:c.1091+162G>C	ENSP00000435950.1:n.1091+162G>C
ENST00000534405.5:c.1131+122G>C	ENSP00000434353.1:n.1131+122G>C
NM_000543.4:c.1091+162G>C	NP_000534.3:n.1091+162G>C
NM_001007593.2:c.1088+162G>C	NP_001007594.2:n.1088+162G>C
XM_005253075.3:c.1091+162G>C	XP_005253132.1:n.1091+162G>C
XM_011520303.1:c.1131+122G>C	XP_011518605.1:n.1131+122G>C
XM_011520304.1:c.1131+122G>C	XP_011518606.1:n.1131+122G>C
XR_930886.1:n.1429+122G>C
NM_001318087.1:c.1091+162G>C	NP_001305016.1:n.1091+162G>C
NM_001318088.1:c.170+122G>C	NP_001305017.1:n.170+122G>C
NM_001365135.1:c.1131+122G>C	NP_001352064.1:n.1131+122G>C
NR_027400.2:n.1276+162G>C
NR_134502.1:n.623+815G>C
XM_011520304.2:c.1131+122G>C	XP_011518606.1:n.1131+122G>C
XR_001747940.2:n.1256+122G>C
XR_002957158.1:n.1256+122G>C
NM_000543.5:c.1091+162G>C MANE Select	NP_000534.3:n.1091+162G>C
NM_001007593.3:c.1088+162G>C	NP_001007594.2:n.1088+162G>C
NM_001318087.2:c.1091+162G>C	NP_001305016.1:n.1091+162G>C
NM_001318088.2:c.170+122G>C	NP_001305017.1:n.170+122G>C
NM_001365135.2:c.1131+122G>C	NP_001352064.1:n.1131+122G>C
NR_027400.3:n.1216+162G>C
NR_134502.2:n.563+815G>C