Canonical Allele Identifier: CA2612223345

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6393810-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393810C>A , CM000673.2:g.6393810C>A	GRCh38
NC_000011.9:g.6415040C>A , CM000673.1:g.6415040C>A	GRCh37
NC_000011.8:g.6371616C>A	NCBI36
NG_011780.1:g.8386C>A
NG_029615.1:g.30605G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.1341-86C>A MANE Select	ENSP00000340409.4:n.1341-86C>A
ENST00000342245.8:c.1341-86C>A	ENSP00000340409.4:n.1341-86C>A
ENST00000526280.1:c.398-86C>A
ENST00000527275.5:c.1338-86C>A	ENSP00000435350.1:n.1338-86C>A
ENST00000531303.5:c.*172-86C>A	ENSP00000432625.1:n.*172-86C>A
ENST00000531336.1:n.173-86C>A
ENST00000532367.1:n.177-86C>A
ENST00000533123.5:c.*68-86C>A	ENSP00000435950.1:n.*68-86C>A
ENST00000534405.5:c.*172-86C>A	ENSP00000434353.1:n.*172-86C>A
NM_000543.4:c.1341-86C>A	NP_000534.3:n.1341-86C>A
NM_001007593.2:c.1338-86C>A	NP_001007594.2:n.1338-86C>A
XM_005253075.3:c.1341-86C>A	XP_005253132.1:n.1341-86C>A
XM_011520303.1:c.1209-86C>A	XP_011518605.1:n.1209-86C>A
XM_011520304.1:c.1209-86C>A	XP_011518606.1:n.1209-86C>A
XR_930886.1:n.1679-86C>A
NM_001318087.1:c.1341-86C>A	NP_001305016.1:n.1341-86C>A
NM_001318088.1:c.420-86C>A	NP_001305017.1:n.420-86C>A
NM_001365135.1:c.1209-86C>A	NP_001352064.1:n.1209-86C>A
NR_027400.2:n.1354-86C>A
NR_134502.1:n.873-86C>A
XM_011520304.2:c.1209-86C>A	XP_011518606.1:n.1209-86C>A
XR_001747940.2:n.1506-86C>A
XR_002957158.1:n.1622C>A
NM_000543.5:c.1341-86C>A MANE Select	NP_000534.3:n.1341-86C>A
NM_001007593.3:c.1338-86C>A	NP_001007594.2:n.1338-86C>A
NM_001318087.2:c.1341-86C>A	NP_001305016.1:n.1341-86C>A
NM_001318088.2:c.420-86C>A	NP_001305017.1:n.420-86C>A
NM_001365135.2:c.1209-86C>A	NP_001352064.1:n.1209-86C>A
NR_027400.3:n.1294-86C>A
NR_134502.2:n.813-86C>A