Canonical Allele Identifier: CA341752835

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226968A>C (hg19) ; chr1:g.114684347A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684347A>C , CM000663.2:g.114684347A>C	GRCh38
NC_000001.10:g.115226968A>C , CM000663.1:g.115226968A>C	GRCh37
NC_000001.9:g.115028491A>C	NCBI36
NG_008012.1:g.16209T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.387T>G	ENSP00000358551.4:p.Phe129Leu
ENST00000520113.7:c.399T>G MANE Select	ENSP00000430075.3:p.Phe133Leu
ENST00000637080.1:c.402T>G	ENSP00000489753.1:p.Phe134Leu
ENST00000639077.1:n.64T>G
ENST00000369538.3:c.486T>G	ENSP00000358551.3:p.Phe162Leu
ENST00000485564.3:n.273T>G
ENST00000520113.6:c.498T>G	ENSP00000430075.2:p.Phe166Leu
NM_000036.2:c.498T>G	NP_000027.2:p.Phe166Leu
NM_001172626.1:c.486T>G	NP_001166097.1:p.Phe162Leu
NM_000036.3:c.399T>G MANE Select	NP_000027.3:p.Phe133Leu
NM_001172626.2:c.387T>G	NP_001166097.2:p.Phe129Leu