Canonical Allele Identifier: CA341752584

Gene: AMPD1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.458G>T	ENSP00000358551.4:p.Arg153Met
ENST00000520113.7:c.470G>T MANE Select	ENSP00000430075.3:p.Arg157Met
ENST00000637080.1:c.473G>T	ENSP00000489753.1:p.Arg158Met
ENST00000639077.1:n.135G>T
ENST00000369538.3:c.557G>T	ENSP00000358551.3:p.Arg186Met
ENST00000485564.3:n.344G>T
ENST00000520113.6:c.569G>T	ENSP00000430075.2:p.Arg190Met
NM_000036.2:c.569G>T	NP_000027.2:p.Arg190Met
NM_001172626.1:c.557G>T	NP_001166097.1:p.Arg186Met
NM_000036.3:c.470G>T MANE Select	NP_000027.3:p.Arg157Met
NM_001172626.2:c.458G>T	NP_001166097.2:p.Arg153Met