Canonical Allele Identifier: CA341752734

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114684315-A-T
• MyVariant Identifiers: chr1:g.115226936A>T (hg19) ; chr1:g.114684315A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684315A>T , CM000663.2:g.114684315A>T	GRCh38
NC_000001.10:g.115226936A>T , CM000663.1:g.115226936A>T	GRCh37
NC_000001.9:g.115028459A>T	NCBI36
NG_008012.1:g.16241T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.419T>A	ENSP00000358551.4:p.Leu140Gln
ENST00000520113.7:c.431T>A MANE Select	ENSP00000430075.3:p.Leu144Gln
ENST00000637080.1:c.434T>A	ENSP00000489753.1:p.Leu145Gln
ENST00000639077.1:n.96T>A
ENST00000369538.3:c.518T>A	ENSP00000358551.3:p.Leu173Gln
ENST00000485564.3:n.305T>A
ENST00000520113.6:c.530T>A	ENSP00000430075.2:p.Leu177Gln
NM_000036.2:c.530T>A	NP_000027.2:p.Leu177Gln
NM_001172626.1:c.518T>A	NP_001166097.1:p.Leu173Gln
NM_000036.3:c.431T>A MANE Select	NP_000027.3:p.Leu144Gln
NM_001172626.2:c.419T>A	NP_001166097.2:p.Leu140Gln