Canonical Allele Identifier: CA341748682

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114677472-C-T
• MyVariant Identifiers: chr1:g.115220093C>T (hg19) ; chr1:g.114677472C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677472C>T , CM000663.2:g.114677472C>T	GRCh38
NC_000001.10:g.115220093C>T , CM000663.1:g.115220093C>T	GRCh37
NC_000001.9:g.115021616C>T	NCBI36
NG_008012.1:g.23084G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1255G>A	ENSP00000358551.4:p.Glu419Lys
ENST00000520113.7:c.1267G>A MANE Select	ENSP00000430075.3:p.Glu423Lys
ENST00000637080.1:c.1050G>A	ENSP00000489753.1:n.1050G>A
ENST00000639077.1:n.932G>A
ENST00000369538.3:c.1354G>A	ENSP00000358551.3:p.Glu452Lys
ENST00000520113.6:c.1366G>A	ENSP00000430075.2:p.Glu456Lys
NM_000036.2:c.1366G>A	NP_000027.2:p.Glu456Lys
NM_001172626.1:c.1354G>A	NP_001166097.1:p.Glu452Lys
NM_000036.3:c.1267G>A MANE Select	NP_000027.3:p.Glu423Lys
NM_001172626.2:c.1255G>A	NP_001166097.2:p.Glu419Lys