Canonical Allele Identifier: CA341752465

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114684243-T-A
• MyVariant Identifiers: chr1:g.115226864T>A (hg19) ; chr1:g.114684243T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684243T>A , CM000663.2:g.114684243T>A	GRCh38
NC_000001.10:g.115226864T>A , CM000663.1:g.115226864T>A	GRCh37
NC_000001.9:g.115028387T>A	NCBI36
NG_008012.1:g.16313A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.491A>T	ENSP00000358551.4:p.Asn164Ile
ENST00000520113.7:c.503A>T MANE Select	ENSP00000430075.3:p.Asn168Ile
ENST00000637080.1:c.506A>T	ENSP00000489753.1:p.Asn169Ile
ENST00000639077.1:n.168A>T
ENST00000369538.3:c.590A>T	ENSP00000358551.3:p.Asn197Ile
ENST00000485564.3:n.377A>T
ENST00000520113.6:c.602A>T	ENSP00000430075.2:p.Asn201Ile
NM_000036.2:c.602A>T	NP_000027.2:p.Asn201Ile
NM_001172626.1:c.590A>T	NP_001166097.1:p.Asn197Ile
NM_000036.3:c.503A>T MANE Select	NP_000027.3:p.Asn168Ile
NM_001172626.2:c.491A>T	NP_001166097.2:p.Asn164Ile