Canonical Allele Identifier: CA341752562

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226891G>C (hg19) ; chr1:g.114684270G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684270G>C , CM000663.2:g.114684270G>C	GRCh38
NC_000001.10:g.115226891G>C , CM000663.1:g.115226891G>C	GRCh37
NC_000001.9:g.115028414G>C	NCBI36
NG_008012.1:g.16286C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.464C>G	ENSP00000358551.4:p.Pro155Arg
ENST00000520113.7:c.476C>G MANE Select	ENSP00000430075.3:p.Pro159Arg
ENST00000637080.1:c.479C>G	ENSP00000489753.1:p.Pro160Arg
ENST00000639077.1:n.141C>G
ENST00000369538.3:c.563C>G	ENSP00000358551.3:p.Pro188Arg
ENST00000485564.3:n.350C>G
ENST00000520113.6:c.575C>G	ENSP00000430075.2:p.Pro192Arg
NM_000036.2:c.575C>G	NP_000027.2:p.Pro192Arg
NM_001172626.1:c.563C>G	NP_001166097.1:p.Pro188Arg
NM_000036.3:c.476C>G MANE Select	NP_000027.3:p.Pro159Arg
NM_001172626.2:c.464C>G	NP_001166097.2:p.Pro155Arg