Canonical Allele Identifier: CA1020206
Gene: AMPD1 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.114677986C>T
GRCh37 chr1:g.115220607C>T
Revel Score:
ENST00000520113 (MANE Select) 0.903
ENST00000369538 0.903
ENST00000353928 0.903
ClinVar RCV:
RCV001957550
ClinVar Variation:
1426002
dbSNP:
769460760
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677986C>T , CM000663.2:g.114677986C>T GRCh38
NC_000001.10:g.115220607C>T , CM000663.1:g.115220607C>T GRCh37
NC_000001.9:g.115022130C>T NCBI36
NG_008012.1:g.22570G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.1136G>A ENSP00000358551.4:p.Gly379Glu
ENST00000520113.7:c.1148G>A MANE Select ENSP00000430075.3:p.Gly383Glu
ENST00000637080.1:c.931G>A ENSP00000489753.1:n.931G>A
ENST00000639077.1:n.813G>A
ENST00000369538.3:c.1235G>A ENSP00000358551.3:p.Gly412Glu
ENST00000520113.6:c.1247G>A ENSP00000430075.2:p.Gly416Glu
NM_000036.2:c.1247G>A NP_000027.2:p.Gly416Glu
NM_001172626.1:c.1235G>A NP_001166097.1:p.Gly412Glu
NM_000036.3:c.1148G>A MANE Select NP_000027.3:p.Gly383Glu
NM_001172626.2:c.1136G>A NP_001166097.2:p.Gly379Glu
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