Canonical Allele Identifier: CA2612220898

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6390489-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390489G>T , CM000673.2:g.6390489G>T	GRCh38
NC_000011.9:g.6411719G>T , CM000673.1:g.6411719G>T	GRCh37
NC_000011.8:g.6368295G>T	NCBI36
NG_011780.1:g.5065G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.-110G>T MANE Select	ENSP00000340409.4:n.-110G>T
ENST00000342245.8:c.-110G>T	ENSP00000340409.4:n.-110G>T
ENST00000527275.5:c.-110G>T	ENSP00000435350.1:n.-110G>T
ENST00000530395.1:c.-246G>T	ENSP00000431479.1:n.-246G>T
ENST00000533196.1:n.50G>T
ENST00000534405.5:c.-110G>T	ENSP00000434353.1:n.-110G>T
NM_000543.4:c.-110G>T	NP_000534.3:n.-110G>T
NM_001007593.2:c.-110G>T	NP_001007594.2:n.-110G>T
XM_005253075.3:c.-110G>T	XP_005253132.1:n.-110G>T
XM_011520303.1:c.-110G>T	XP_011518605.1:n.-110G>T
XM_011520304.1:c.-110G>T	XP_011518606.1:n.-110G>T
XR_930886.1:n.189G>T
NM_001318087.1:c.-110G>T	NP_001305016.1:n.-110G>T
NM_001318088.1:c.-1071G>T	NP_001305017.1:n.-1071G>T
NM_001365135.1:c.-110G>T	NP_001352064.1:n.-110G>T
NR_027400.2:n.76G>T
NR_134502.1:n.76G>T
XM_011520304.2:c.-110G>T	XP_011518606.1:n.-110G>T
XR_001747940.2:n.16G>T
XR_002957158.1:n.16G>T
NM_000543.5:c.-110G>T MANE Select	NP_000534.3:n.-110G>T
NM_001007593.3:c.-110G>T	NP_001007594.2:n.-110G>T
NM_001318087.2:c.-110G>T	NP_001305016.1:n.-110G>T
NM_001318088.2:c.-1071G>T	NP_001305017.1:n.-1071G>T
NM_001365135.2:c.-110G>T	NP_001352064.1:n.-110G>T
NR_027400.3:n.16G>T
NR_134502.2:n.16G>T