Canonical Allele Identifier: CA341752458

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226863G>C (hg19) ; chr1:g.114684242G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684242G>C , CM000663.2:g.114684242G>C	GRCh38
NC_000001.10:g.115226863G>C , CM000663.1:g.115226863G>C	GRCh37
NC_000001.9:g.115028386G>C	NCBI36
NG_008012.1:g.16314C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.492C>G	ENSP00000358551.4:p.Asn164Lys
ENST00000520113.7:c.504C>G MANE Select	ENSP00000430075.3:p.Asn168Lys
ENST00000637080.1:c.507C>G	ENSP00000489753.1:p.Asn169Lys
ENST00000639077.1:n.169C>G
ENST00000369538.3:c.591C>G	ENSP00000358551.3:p.Asn197Lys
ENST00000485564.3:n.378C>G
ENST00000520113.6:c.603C>G	ENSP00000430075.2:p.Asn201Lys
NM_000036.2:c.603C>G	NP_000027.2:p.Asn201Lys
NM_001172626.1:c.591C>G	NP_001166097.1:p.Asn197Lys
NM_000036.3:c.504C>G MANE Select	NP_000027.3:p.Asn168Lys
NM_001172626.2:c.492C>G	NP_001166097.2:p.Asn164Lys