Canonical Allele Identifier: CA341752684

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226922T>G (hg19) ; chr1:g.114684301T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684301T>G , CM000663.2:g.114684301T>G	GRCh38
NC_000001.10:g.115226922T>G , CM000663.1:g.115226922T>G	GRCh37
NC_000001.9:g.115028445T>G	NCBI36
NG_008012.1:g.16255A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.433A>C	ENSP00000358551.4:p.Lys145Gln
ENST00000520113.7:c.445A>C MANE Select	ENSP00000430075.3:p.Lys149Gln
ENST00000637080.1:c.448A>C	ENSP00000489753.1:p.Lys150Gln
ENST00000639077.1:n.110A>C
ENST00000369538.3:c.532A>C	ENSP00000358551.3:p.Lys178Gln
ENST00000485564.3:n.319A>C
ENST00000520113.6:c.544A>C	ENSP00000430075.2:p.Lys182Gln
NM_000036.2:c.544A>C	NP_000027.2:p.Lys182Gln
NM_001172626.1:c.532A>C	NP_001166097.1:p.Lys178Gln
NM_000036.3:c.445A>C MANE Select	NP_000027.3:p.Lys149Gln
NM_001172626.2:c.433A>C	NP_001166097.2:p.Lys145Gln