Canonical Allele Identifier: CA341749094
Gene: AMPD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.115220599C>A (hg19) chr1:g.114677978C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677978C>A , CM000663.2:g.114677978C>A GRCh38
NC_000001.10:g.115220599C>A , CM000663.1:g.115220599C>A GRCh37
NC_000001.9:g.115022122C>A NCBI36
NG_008012.1:g.22578G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1144G>T ENSP00000358551.4:p.Glu382Ter
ENST00000520113.7:c.1156G>T MANE Select ENSP00000430075.3:p.Glu386Ter
ENST00000637080.1:n.939G>T ENSP00000489753.1:n.939G>T
ENST00000639077.1:n.821G>T
ENST00000369538.3:c.1243G>T ENSP00000358551.3:p.Glu415Ter
ENST00000520113.6:c.1255G>T ENSP00000430075.2:p.Glu419Ter
NM_000036.2:c.1255G>T NP_000027.2:p.Glu419Ter
NM_001172626.1:c.1243G>T NP_001166097.1:p.Glu415Ter
NM_000036.3:c.1156G>T MANE Select NP_000027.3:p.Glu386Ter
NM_001172626.2:c.1144G>T NP_001166097.2:p.Glu382Ter
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