Canonical Allele Identifier: CA1020547
Gene: AMPD1 HGNC NCBI
COSMIC:
COSM1162371 (not active)
COSM1162372 (not active)
MyVariant.info:
GRCh38 chr1:g.114688633G>A
GRCh37 chr1:g.115231254G>A
Revel Score:
ENST00000520113 (MANE Select) 0.513
ENST00000369538 0.513
ENST00000353928 0.513
gnomAD v2:
1:115231254 G / A
gnomAD v3:
1:114688633 G / A
gnomAD v4:
chr1-114688633-G-A
Joint Max Group AF 0.13170031 (NFE)
Genomes Max Group AF 0.13216559 (NFE)
Exomes Max Group AF 0.13154804 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114688633G>A , CM000663.2:g.114688633G>A GRCh38
NC_000001.10:g.115231254G>A , CM000663.1:g.115231254G>A GRCh37
NC_000001.9:g.115032777G>A NCBI36
NG_008012.1:g.11923C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.131C>T ENSP00000358551.4:p.Pro44Leu
ENST00000520113.7:c.143C>T MANE Select ENSP00000430075.3:p.Pro48Leu
ENST00000637080.1:c.146C>T ENSP00000489753.1:p.Pro49Leu
ENST00000369538.3:c.230C>T ENSP00000358551.3:p.Pro77Leu
ENST00000520113.6:c.242C>T ENSP00000430075.2:p.Pro81Leu
NM_000036.2:c.242C>T NP_000027.2:p.Pro81Leu
NM_001172626.1:c.230C>T NP_001166097.1:p.Pro77Leu
NM_000036.3:c.143C>T MANE Select NP_000027.3:p.Pro48Leu
NM_001172626.2:c.131C>T NP_001166097.2:p.Pro44Leu
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