Canonical Allele Identifier: CA1020189
Gene: AMPD1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.114677917A>G
GRCh37 chr1:g.115220538A>G
Revel Score:
ENST00000520113 (MANE Select) 0.939
ENST00000369538 0.939
ENST00000353928 0.939
gnomAD v2:
1:115220538 A / G
gnomAD v4:
chr1-114677917-A-G
Joint Max Group AF 0.0000103 (NFE)
Exomes Max Group AF 0.00001093 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677917A>G , CM000663.2:g.114677917A>G GRCh38
NC_000001.10:g.115220538A>G , CM000663.1:g.115220538A>G GRCh37
NC_000001.9:g.115022061A>G NCBI36
NG_008012.1:g.22639T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1205T>C ENSP00000358551.4:p.Ile402Thr
ENST00000520113.7:c.1217T>C MANE Select ENSP00000430075.3:p.Ile406Thr
ENST00000637080.1:c.1000T>C ENSP00000489753.1:n.1000T>C
ENST00000639077.1:n.882T>C
ENST00000369538.3:c.1304T>C ENSP00000358551.3:p.Ile435Thr
ENST00000520113.6:c.1316T>C ENSP00000430075.2:p.Ile439Thr
NM_000036.2:c.1316T>C NP_000027.2:p.Ile439Thr
NM_001172626.1:c.1304T>C NP_001166097.1:p.Ile435Thr
NM_000036.3:c.1217T>C MANE Select NP_000027.3:p.Ile406Thr
NM_001172626.2:c.1205T>C NP_001166097.2:p.Ile402Thr
Search 100 bp 5'
Search 100 bp 3'