Canonical Allele Identifier: CA419883479

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114684230-C-T
• MyVariant Identifiers: chr1:g.115226851C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684230C>T , CM000663.2:g.114684230C>T	GRCh38
NC_000001.10:g.115226851C>T , CM000663.1:g.115226851C>T	GRCh37
NC_000001.9:g.115028374C>T	NCBI36
NG_008012.1:g.16326G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.504G>A	ENSP00000358551.4:p.Glu168=
ENST00000520113.7:c.516G>A MANE Select	ENSP00000430075.3:p.Glu172=
ENST00000637080.1:c.519G>A	ENSP00000489753.1:p.Glu173=
ENST00000639077.1:n.181G>A
ENST00000369538.3:c.603G>A	ENSP00000358551.3:p.Glu201=
ENST00000485564.3:n.390G>A
ENST00000520113.6:c.615G>A	ENSP00000430075.2:p.Glu205=
NM_000036.2:c.615G>A	NP_000027.2:p.Glu205=
NM_001172626.1:c.603G>A	NP_001166097.1:p.Glu201=
NM_000036.3:c.516G>A MANE Select	NP_000027.3:p.Glu172=
NM_001172626.2:c.504G>A	NP_001166097.2:p.Glu168=