Canonical Allele Identifier: CA341752868

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114684355-C-A
• MyVariant Identifiers: chr1:g.115226976C>A (hg19) ; chr1:g.114684355C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684355C>A , CM000663.2:g.114684355C>A	GRCh38
NC_000001.10:g.115226976C>A , CM000663.1:g.115226976C>A	GRCh37
NC_000001.9:g.115028499C>A	NCBI36
NG_008012.1:g.16201G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.379G>T	ENSP00000358551.4:p.Glu127Ter
ENST00000520113.7:c.391G>T MANE Select	ENSP00000430075.3:p.Glu131Ter
ENST00000637080.1:c.394G>T	ENSP00000489753.1:p.Glu132Ter
ENST00000639077.1:n.56G>T
ENST00000369538.3:c.478G>T	ENSP00000358551.3:p.Glu160Ter
ENST00000485564.3:n.265G>T
ENST00000520113.6:c.490G>T	ENSP00000430075.2:p.Glu164Ter
NM_000036.2:c.490G>T	NP_000027.2:p.Glu164Ter
NM_001172626.1:c.478G>T	NP_001166097.1:p.Glu160Ter
NM_000036.3:c.391G>T MANE Select	NP_000027.3:p.Glu131Ter
NM_001172626.2:c.379G>T	NP_001166097.2:p.Glu127Ter