Canonical Allele Identifier: CA341749085
Gene: AMPD1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114677974A>G , CM000663.2:g.114677974A>G GRCh38
NC_000001.10:g.115220595A>G , CM000663.1:g.115220595A>G GRCh37
NC_000001.9:g.115022118A>G NCBI36
NG_008012.1:g.22582T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000369538.4:c.1148T>C ENSP00000358551.4:p.Leu383Pro
ENST00000520113.7:c.1160T>C MANE Select ENSP00000430075.3:p.Leu387Pro
ENST00000637080.1:n.943T>C ENSP00000489753.1:n.943T>C
ENST00000639077.1:n.825T>C
ENST00000369538.3:c.1247T>C ENSP00000358551.3:p.Leu416Pro
ENST00000520113.6:c.1259T>C ENSP00000430075.2:p.Leu420Pro
NM_000036.2:c.1259T>C NP_000027.2:p.Leu420Pro
NM_001172626.1:c.1247T>C NP_001166097.1:p.Leu416Pro
NM_000036.3:c.1160T>C MANE Select NP_000027.3:p.Leu387Pro
NM_001172626.2:c.1148T>C NP_001166097.2:p.Leu383Pro