Canonical Allele Identifier: CA341750054

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115222238T>C (hg19) ; chr1:g.114679617T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679617T>C , CM000663.2:g.114679617T>C	GRCh38
NC_000001.10:g.115222238T>C , CM000663.1:g.115222238T>C	GRCh37
NC_000001.9:g.115023761T>C	NCBI36
NG_008012.1:g.20939A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.847A>G	ENSP00000358551.4:p.Lys283Glu
ENST00000520113.7:c.859A>G MANE Select	ENSP00000430075.3:p.Lys287Glu
ENST00000637080.1:c.642A>G	ENSP00000489753.1:n.642A>G
ENST00000639077.1:n.524A>G
ENST00000369538.3:c.946A>G	ENSP00000358551.3:p.Lys316Glu
ENST00000520113.6:c.958A>G	ENSP00000430075.2:p.Lys320Glu
NM_000036.2:c.958A>G	NP_000027.2:p.Lys320Glu
NM_001172626.1:c.946A>G	NP_001166097.1:p.Lys316Glu
NM_000036.3:c.859A>G MANE Select	NP_000027.3:p.Lys287Glu
NM_001172626.2:c.847A>G	NP_001166097.2:p.Lys283Glu