Canonical Allele Identifier: CA2612223192

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6393487-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6393487C>T , CM000673.2:g.6393487C>T	GRCh38
NC_000011.9:g.6414717C>T , CM000673.1:g.6414717C>T	GRCh37
NC_000011.8:g.6371293C>T	NCBI36
NG_011780.1:g.8063C>T
NG_029615.1:g.30928G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000342245.9:c.1263+100C>T MANE Select	ENSP00000340409.4:n.1263+100C>T
ENST00000342245.8:c.1263+100C>T	ENSP00000340409.4:n.1263+100C>T
ENST00000526280.1:c.321-130C>T
ENST00000527275.5:c.1260+100C>T	ENSP00000435350.1:n.1260+100C>T
ENST00000531303.5:c.*94+100C>T	ENSP00000432625.1:n.*94+100C>T
ENST00000531336.1:n.95+100C>T
ENST00000533123.5:c.1092-130C>T	ENSP00000435950.1:n.1092-130C>T
ENST00000534405.5:c.*94+100C>T	ENSP00000434353.1:n.*94+100C>T
NM_000543.4:c.1263+100C>T	NP_000534.3:n.1263+100C>T
NM_001007593.2:c.1260+100C>T	NP_001007594.2:n.1260+100C>T
XM_005253075.3:c.1263+100C>T	XP_005253132.1:n.1263+100C>T
XM_011520303.1:c.1132-130C>T	XP_011518605.1:n.1132-130C>T
XM_011520304.1:c.1132-130C>T	XP_011518606.1:n.1132-130C>T
XR_930886.1:n.1601+100C>T
NM_001318087.1:c.1263+100C>T	NP_001305016.1:n.1263+100C>T
NM_001318088.1:c.342+100C>T	NP_001305017.1:n.342+100C>T
NM_001365135.1:c.1132-130C>T	NP_001352064.1:n.1132-130C>T
NR_027400.2:n.1277-130C>T
NR_134502.1:n.795+100C>T
XM_011520304.2:c.1132-130C>T	XP_011518606.1:n.1132-130C>T
XR_001747940.2:n.1428+100C>T
XR_002957158.1:n.1428+100C>T
NM_000543.5:c.1263+100C>T MANE Select	NP_000534.3:n.1263+100C>T
NM_001007593.3:c.1260+100C>T	NP_001007594.2:n.1260+100C>T
NM_001318087.2:c.1263+100C>T	NP_001305016.1:n.1263+100C>T
NM_001318088.2:c.342+100C>T	NP_001305017.1:n.342+100C>T
NM_001365135.2:c.1132-130C>T	NP_001352064.1:n.1132-130C>T
NR_027400.3:n.1217-130C>T
NR_134502.2:n.735+100C>T