Canonical Allele Identifier: CA341752536

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226883G>T (hg19) ; chr1:g.114684262G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684262G>T , CM000663.2:g.114684262G>T	GRCh38
NC_000001.10:g.115226883G>T , CM000663.1:g.115226883G>T	GRCh37
NC_000001.9:g.115028406G>T	NCBI36
NG_008012.1:g.16294C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.472C>A	ENSP00000358551.4:p.Pro158Thr
ENST00000520113.7:c.484C>A MANE Select	ENSP00000430075.3:p.Pro162Thr
ENST00000637080.1:c.487C>A	ENSP00000489753.1:p.Pro163Thr
ENST00000639077.1:n.149C>A
ENST00000369538.3:c.571C>A	ENSP00000358551.3:p.Pro191Thr
ENST00000485564.3:n.358C>A
ENST00000520113.6:c.583C>A	ENSP00000430075.2:p.Pro195Thr
NM_000036.2:c.583C>A	NP_000027.2:p.Pro195Thr
NM_001172626.1:c.571C>A	NP_001166097.1:p.Pro191Thr
NM_000036.3:c.484C>A MANE Select	NP_000027.3:p.Pro162Thr
NM_001172626.2:c.472C>A	NP_001166097.2:p.Pro158Thr