Canonical Allele Identifier: CA419883116

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115220609T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677988T>C , CM000663.2:g.114677988T>C	GRCh38
NC_000001.10:g.115220609T>C , CM000663.1:g.115220609T>C	GRCh37
NC_000001.9:g.115022132T>C	NCBI36
NG_008012.1:g.22568A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1134A>G	ENSP00000358551.4:p.Val378=
ENST00000520113.7:c.1146A>G MANE Select	ENSP00000430075.3:p.Val382=
ENST00000637080.1:c.929A>G	ENSP00000489753.1:n.929A>G
ENST00000639077.1:n.811A>G
ENST00000369538.3:c.1233A>G	ENSP00000358551.3:p.Val411=
ENST00000520113.6:c.1245A>G	ENSP00000430075.2:p.Val415=
NM_000036.2:c.1245A>G	NP_000027.2:p.Val415=
NM_001172626.1:c.1233A>G	NP_001166097.1:p.Val411=
NM_000036.3:c.1146A>G MANE Select	NP_000027.3:p.Val382=
NM_001172626.2:c.1134A>G	NP_001166097.2:p.Val378=