Canonical Allele Identifier: CA2612220888

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6390479-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6390479G>A , CM000673.2:g.6390479G>A	GRCh38
NC_000011.9:g.6411709G>A , CM000673.1:g.6411709G>A	GRCh37
NC_000011.8:g.6368285G>A	NCBI36
NG_011780.1:g.5055G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.-120G>A MANE Select	ENSP00000340409.4:n.-120G>A
ENST00000342245.8:c.-120G>A	ENSP00000340409.4:n.-120G>A
ENST00000527275.5:c.-120G>A	ENSP00000435350.1:n.-120G>A
ENST00000530395.1:c.-256G>A	ENSP00000431479.1:n.-256G>A
ENST00000533196.1:n.40G>A
ENST00000534405.5:c.-120G>A	ENSP00000434353.1:n.-120G>A
NM_000543.4:c.-120G>A	NP_000534.3:n.-120G>A
NM_001007593.2:c.-120G>A	NP_001007594.2:n.-120G>A
XM_005253075.3:c.-120G>A	XP_005253132.1:n.-120G>A
XM_011520303.1:c.-120G>A	XP_011518605.1:n.-120G>A
XM_011520304.1:c.-120G>A	XP_011518606.1:n.-120G>A
XR_930886.1:n.179G>A
NM_001318087.1:c.-120G>A	NP_001305016.1:n.-120G>A
NM_001318088.1:c.-1081G>A	NP_001305017.1:n.-1081G>A
NM_001365135.1:c.-120G>A	NP_001352064.1:n.-120G>A
NR_027400.2:n.66G>A
NR_134502.1:n.66G>A
XM_011520304.2:c.-120G>A	XP_011518606.1:n.-120G>A
XR_001747940.2:n.6G>A
XR_002957158.1:n.6G>A
NM_000543.5:c.-120G>A MANE Select	NP_000534.3:n.-120G>A
NM_001007593.3:c.-120G>A	NP_001007594.2:n.-120G>A
NM_001318087.2:c.-120G>A	NP_001305016.1:n.-120G>A
NM_001318088.2:c.-1081G>A	NP_001305017.1:n.-1081G>A
NM_001365135.2:c.-120G>A	NP_001352064.1:n.-120G>A
NR_027400.3:n.6G>A
NR_134502.2:n.6G>A