Canonical Allele Identifier: CA341752883

Gene: AMPD1

Linked Data

• gnomAD v3: 1-114684360-G-A
• gnomAD v4: 1-114684360-G-A
• MyVariant Identifiers: chr1:g.115226981G>A (hg19) ; chr1:g.114684360G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684360G>A , CM000663.2:g.114684360G>A	GRCh38
NC_000001.10:g.115226981G>A , CM000663.1:g.115226981G>A	GRCh37
NC_000001.9:g.115028504G>A	NCBI36
NG_008012.1:g.16196C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.374C>T	ENSP00000358551.4:p.Thr125Ile
ENST00000520113.7:c.386C>T MANE Select	ENSP00000430075.3:p.Thr129Ile
ENST00000637080.1:c.389C>T	ENSP00000489753.1:p.Thr130Ile
ENST00000639077.1:n.51C>T
ENST00000369538.3:c.473C>T	ENSP00000358551.3:p.Thr158Ile
ENST00000485564.3:n.260C>T
ENST00000520113.6:c.485C>T	ENSP00000430075.2:p.Thr162Ile
NM_000036.2:c.485C>T	NP_000027.2:p.Thr162Ile
NM_001172626.1:c.473C>T	NP_001166097.1:p.Thr158Ile
NM_000036.3:c.386C>T MANE Select	NP_000027.3:p.Thr129Ile
NM_001172626.2:c.374C>T	NP_001166097.2:p.Thr125Ile