Canonical Allele Identifier: CA341752563

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226892G>C (hg19) ; chr1:g.114684271G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684271G>C , CM000663.2:g.114684271G>C	GRCh38
NC_000001.10:g.115226892G>C , CM000663.1:g.115226892G>C	GRCh37
NC_000001.9:g.115028415G>C	NCBI36
NG_008012.1:g.16285C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.463C>G	ENSP00000358551.4:p.Pro155Ala
ENST00000520113.7:c.475C>G MANE Select	ENSP00000430075.3:p.Pro159Ala
ENST00000637080.1:c.478C>G	ENSP00000489753.1:p.Pro160Ala
ENST00000639077.1:n.140C>G
ENST00000369538.3:c.562C>G	ENSP00000358551.3:p.Pro188Ala
ENST00000485564.3:n.349C>G
ENST00000520113.6:c.574C>G	ENSP00000430075.2:p.Pro192Ala
NM_000036.2:c.574C>G	NP_000027.2:p.Pro192Ala
NM_001172626.1:c.562C>G	NP_001166097.1:p.Pro188Ala
NM_000036.3:c.475C>G MANE Select	NP_000027.3:p.Pro159Ala
NM_001172626.2:c.463C>G	NP_001166097.2:p.Pro155Ala