Canonical Allele Identifier: CA419883107
Gene: AMPD1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.115220596G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677975G>A , CM000663.2:g.114677975G>A GRCh38
NC_000001.10:g.115220596G>A , CM000663.1:g.115220596G>A GRCh37
NC_000001.9:g.115022119G>A NCBI36
NG_008012.1:g.22581C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1147C>T ENSP00000358551.4:p.Leu383=
ENST00000520113.7:c.1159C>T MANE Select ENSP00000430075.3:p.Leu387=
ENST00000637080.1:n.942C>T ENSP00000489753.1:n.942C>T
ENST00000639077.1:n.824C>T
ENST00000369538.3:c.1246C>T ENSP00000358551.3:p.Leu416=
ENST00000520113.6:c.1258C>T ENSP00000430075.2:p.Leu420=
NM_000036.2:c.1258C>T NP_000027.2:p.Leu420=
NM_001172626.1:c.1246C>T NP_001166097.1:p.Leu416=
NM_000036.3:c.1159C>T MANE Select NP_000027.3:p.Leu387=
NM_001172626.2:c.1147C>T NP_001166097.2:p.Leu383=