Canonical Allele Identifier: CA419883539

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226956G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684335G>A , CM000663.2:g.114684335G>A	GRCh38
NC_000001.10:g.115226956G>A , CM000663.1:g.115226956G>A	GRCh37
NC_000001.9:g.115028479G>A	NCBI36
NG_008012.1:g.16221C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.399C>T	ENSP00000358551.4:p.Cys133=
ENST00000520113.7:c.411C>T MANE Select	ENSP00000430075.3:p.Cys137=
ENST00000637080.1:c.414C>T	ENSP00000489753.1:p.Cys138=
ENST00000639077.1:n.76C>T
ENST00000369538.3:c.498C>T	ENSP00000358551.3:p.Cys166=
ENST00000485564.3:n.285C>T
ENST00000520113.6:c.510C>T	ENSP00000430075.2:p.Cys170=
NM_000036.2:c.510C>T	NP_000027.2:p.Cys170=
NM_001172626.1:c.498C>T	NP_001166097.1:p.Cys166=
NM_000036.3:c.411C>T MANE Select	NP_000027.3:p.Cys137=
NM_001172626.2:c.399C>T	NP_001166097.2:p.Cys133=