Canonical Allele Identifier: CA341752336

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226838T>C (hg19) ; chr1:g.114684217T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684217T>C , CM000663.2:g.114684217T>C	GRCh38
NC_000001.10:g.115226838T>C , CM000663.1:g.115226838T>C	GRCh37
NC_000001.9:g.115028361T>C	NCBI36
NG_008012.1:g.16339A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.517A>G	ENSP00000358551.4:p.Asn173Asp
ENST00000520113.7:c.529A>G MANE Select	ENSP00000430075.3:p.Asn177Asp
ENST00000637080.1:c.532A>G	ENSP00000489753.1:p.Asn178Asp
ENST00000639077.1:n.194A>G
ENST00000369538.3:c.616A>G	ENSP00000358551.3:p.Asn206Asp
ENST00000485564.3:n.403A>G
ENST00000520113.6:c.628A>G	ENSP00000430075.2:p.Asn210Asp
NM_000036.2:c.628A>G	NP_000027.2:p.Asn210Asp
NM_001172626.1:c.616A>G	NP_001166097.1:p.Asn206Asp
NM_000036.3:c.529A>G MANE Select	NP_000027.3:p.Asn177Asp
NM_001172626.2:c.517A>G	NP_001166097.2:p.Asn173Asp