Canonical Allele Identifier: CA341752401

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226853C>T (hg19) ; chr1:g.114684232C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684232C>T , CM000663.2:g.114684232C>T	GRCh38
NC_000001.10:g.115226853C>T , CM000663.1:g.115226853C>T	GRCh37
NC_000001.9:g.115028376C>T	NCBI36
NG_008012.1:g.16324G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.502G>A	ENSP00000358551.4:p.Glu168Lys
ENST00000520113.7:c.514G>A MANE Select	ENSP00000430075.3:p.Glu172Lys
ENST00000637080.1:c.517G>A	ENSP00000489753.1:p.Glu173Lys
ENST00000639077.1:n.179G>A
ENST00000369538.3:c.601G>A	ENSP00000358551.3:p.Glu201Lys
ENST00000485564.3:n.388G>A
ENST00000520113.6:c.613G>A	ENSP00000430075.2:p.Glu205Lys
NM_000036.2:c.613G>A	NP_000027.2:p.Glu205Lys
NM_001172626.1:c.601G>A	NP_001166097.1:p.Glu201Lys
NM_000036.3:c.514G>A MANE Select	NP_000027.3:p.Glu172Lys
NM_001172626.2:c.502G>A	NP_001166097.2:p.Glu168Lys