Canonical Allele Identifier: CA341752353

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226843A>T (hg19) ; chr1:g.114684222A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684222A>T , CM000663.2:g.114684222A>T	GRCh38
NC_000001.10:g.115226843A>T , CM000663.1:g.115226843A>T	GRCh37
NC_000001.9:g.115028366A>T	NCBI36
NG_008012.1:g.16334T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.512T>A	ENSP00000358551.4:p.Val171Glu
ENST00000520113.7:c.524T>A MANE Select	ENSP00000430075.3:p.Val175Glu
ENST00000637080.1:c.527T>A	ENSP00000489753.1:p.Val176Glu
ENST00000639077.1:n.189T>A
ENST00000369538.3:c.611T>A	ENSP00000358551.3:p.Val204Glu
ENST00000485564.3:n.398T>A
ENST00000520113.6:c.623T>A	ENSP00000430075.2:p.Val208Glu
NM_000036.2:c.623T>A	NP_000027.2:p.Val208Glu
NM_001172626.1:c.611T>A	NP_001166097.1:p.Val204Glu
NM_000036.3:c.524T>A MANE Select	NP_000027.3:p.Val175Glu
NM_001172626.2:c.512T>A	NP_001166097.2:p.Val171Glu