Canonical Allele Identifier: CA2612224384

Gene: SMPD1

Linked Data

• gnomAD v4: 11-6394864-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6394864G>A , CM000673.2:g.6394864G>A	GRCh38
NC_000011.9:g.6416094G>A , CM000673.1:g.6416094G>A	GRCh37
NC_000011.8:g.6372670G>A	NCBI36
NG_011780.1:g.9440G>A
NG_029615.1:g.29551C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000342245.9:c.*257G>A MANE Select	ENSP00000340409.4:n.*257G>A
ENST00000342245.8:c.*257G>A	ENSP00000340409.4:n.*257G>A
ENST00000526280.1:c.1210G>A
ENST00000533123.5:c.*880G>A	ENSP00000435950.1:n.*880G>A
ENST00000534405.5:c.*984G>A	ENSP00000434353.1:n.*984G>A
NM_000543.4:c.*257G>A	NP_000534.3:n.*257G>A
NM_001007593.2:c.*257G>A	NP_001007594.2:n.*257G>A
XM_011520303.1:c.*257G>A	XP_011518605.1:n.*257G>A
NM_001318087.1:c.*646G>A	NP_001305016.1:n.*646G>A
NM_001318088.1:c.*257G>A	NP_001305017.1:n.*257G>A
NM_001365135.1:c.*257G>A	NP_001352064.1:n.*257G>A
NR_027400.2:n.2166G>A
NR_134502.1:n.1705G>A
XR_001747940.2:n.2338G>A
XR_002957158.1:n.2520G>A
NM_000543.5:c.*257G>A MANE Select	NP_000534.3:n.*257G>A
NM_001007593.3:c.*257G>A	NP_001007594.2:n.*257G>A
NM_001318087.2:c.*646G>A	NP_001305016.1:n.*646G>A
NM_001318088.2:c.*257G>A	NP_001305017.1:n.*257G>A
NM_001365135.2:c.*257G>A	NP_001352064.1:n.*257G>A
NR_027400.3:n.2106G>A
NR_134502.2:n.1645G>A