Canonical Allele Identifier: CA341750055

Gene: AMPD1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.847A>C	ENSP00000358551.4:p.Lys283Gln
ENST00000520113.7:c.859A>C MANE Select	ENSP00000430075.3:p.Lys287Gln
ENST00000637080.1:c.642A>C	ENSP00000489753.1:n.642A>C
ENST00000639077.1:n.524A>C
ENST00000369538.3:c.946A>C	ENSP00000358551.3:p.Lys316Gln
ENST00000520113.6:c.958A>C	ENSP00000430075.2:p.Lys320Gln
NM_000036.2:c.958A>C	NP_000027.2:p.Lys320Gln
NM_001172626.1:c.946A>C	NP_001166097.1:p.Lys316Gln
NM_000036.3:c.859A>C MANE Select	NP_000027.3:p.Lys287Gln
NM_001172626.2:c.847A>C	NP_001166097.2:p.Lys283Gln