Canonical Allele Identifier: CA419883532

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226947C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684326C>A , CM000663.2:g.114684326C>A	GRCh38
NC_000001.10:g.115226947C>A , CM000663.1:g.115226947C>A	GRCh37
NC_000001.9:g.115028470C>A	NCBI36
NG_008012.1:g.16230G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.408G>T	ENSP00000358551.4:p.Leu136=
ENST00000520113.7:c.420G>T MANE Select	ENSP00000430075.3:p.Leu140=
ENST00000637080.1:c.423G>T	ENSP00000489753.1:p.Leu141=
ENST00000639077.1:n.85G>T
ENST00000369538.3:c.507G>T	ENSP00000358551.3:p.Leu169=
ENST00000485564.3:n.294G>T
ENST00000520113.6:c.519G>T	ENSP00000430075.2:p.Leu173=
NM_000036.2:c.519G>T	NP_000027.2:p.Leu173=
NM_001172626.1:c.507G>T	NP_001166097.1:p.Leu169=
NM_000036.3:c.420G>T MANE Select	NP_000027.3:p.Leu140=
NM_001172626.2:c.408G>T	NP_001166097.2:p.Leu136=