Canonical Allele Identifier: CA341752444

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226861A>T (hg19) ; chr1:g.114684240A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684240A>T , CM000663.2:g.114684240A>T	GRCh38
NC_000001.10:g.115226861A>T , CM000663.1:g.115226861A>T	GRCh37
NC_000001.9:g.115028384A>T	NCBI36
NG_008012.1:g.16316T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.494T>A	ENSP00000358551.4:p.Ile165Asn
ENST00000520113.7:c.506T>A MANE Select	ENSP00000430075.3:p.Ile169Asn
ENST00000637080.1:c.509T>A	ENSP00000489753.1:p.Ile170Asn
ENST00000639077.1:n.171T>A
ENST00000369538.3:c.593T>A	ENSP00000358551.3:p.Ile198Asn
ENST00000485564.3:n.380T>A
ENST00000520113.6:c.605T>A	ENSP00000430075.2:p.Ile202Asn
NM_000036.2:c.605T>A	NP_000027.2:p.Ile202Asn
NM_001172626.1:c.593T>A	NP_001166097.1:p.Ile198Asn
NM_000036.3:c.506T>A MANE Select	NP_000027.3:p.Ile169Asn
NM_001172626.2:c.494T>A	NP_001166097.2:p.Ile165Asn