Canonical Allele Identifier: CA341752587

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226897C>T (hg19) ; chr1:g.114684276C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684276C>T , CM000663.2:g.114684276C>T	GRCh38
NC_000001.10:g.115226897C>T , CM000663.1:g.115226897C>T	GRCh37
NC_000001.9:g.115028420C>T	NCBI36
NG_008012.1:g.16280G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.458G>A	ENSP00000358551.4:p.Arg153Lys
ENST00000520113.7:c.470G>A MANE Select	ENSP00000430075.3:p.Arg157Lys
ENST00000637080.1:c.473G>A	ENSP00000489753.1:p.Arg158Lys
ENST00000639077.1:n.135G>A
ENST00000369538.3:c.557G>A	ENSP00000358551.3:p.Arg186Lys
ENST00000485564.3:n.344G>A
ENST00000520113.6:c.569G>A	ENSP00000430075.2:p.Arg190Lys
NM_000036.2:c.569G>A	NP_000027.2:p.Arg190Lys
NM_001172626.1:c.557G>A	NP_001166097.1:p.Arg186Lys
NM_000036.3:c.470G>A MANE Select	NP_000027.3:p.Arg157Lys
NM_001172626.2:c.458G>A	NP_001166097.2:p.Arg153Lys