Canonical Allele Identifier: CA341752232

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226823G>C (hg19) ; chr1:g.114684202G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684202G>C , CM000663.2:g.114684202G>C	GRCh38
NC_000001.10:g.115226823G>C , CM000663.1:g.115226823G>C	GRCh37
NC_000001.9:g.115028346G>C	NCBI36
NG_008012.1:g.16354C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.532C>G	ENSP00000358551.4:p.Pro178Ala
ENST00000520113.7:c.544C>G MANE Select	ENSP00000430075.3:p.Pro182Ala
ENST00000637080.1:c.547C>G	ENSP00000489753.1:p.Pro183Ala
ENST00000639077.1:n.209C>G
ENST00000369538.3:c.631C>G	ENSP00000358551.3:p.Pro211Ala
ENST00000485564.3:n.418C>G
ENST00000520113.6:c.643C>G	ENSP00000430075.2:p.Pro215Ala
NM_000036.2:c.643C>G	NP_000027.2:p.Pro215Ala
NM_001172626.1:c.631C>G	NP_001166097.1:p.Pro211Ala
NM_000036.3:c.544C>G MANE Select	NP_000027.3:p.Pro182Ala
NM_001172626.2:c.532C>G	NP_001166097.2:p.Pro178Ala