Canonical Allele Identifier: CA341752723

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226933C>T (hg19) ; chr1:g.114684312C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684312C>T , CM000663.2:g.114684312C>T	GRCh38
NC_000001.10:g.115226933C>T , CM000663.1:g.115226933C>T	GRCh37
NC_000001.9:g.115028456C>T	NCBI36
NG_008012.1:g.16244G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.422G>A	ENSP00000358551.4:p.Cys141Tyr
ENST00000520113.7:c.434G>A MANE Select	ENSP00000430075.3:p.Cys145Tyr
ENST00000637080.1:c.437G>A	ENSP00000489753.1:p.Cys146Tyr
ENST00000639077.1:n.99G>A
ENST00000369538.3:c.521G>A	ENSP00000358551.3:p.Cys174Tyr
ENST00000485564.3:n.308G>A
ENST00000520113.6:c.533G>A	ENSP00000430075.2:p.Cys178Tyr
NM_000036.2:c.533G>A	NP_000027.2:p.Cys178Tyr
NM_001172626.1:c.521G>A	NP_001166097.1:p.Cys174Tyr
NM_000036.3:c.434G>A MANE Select	NP_000027.3:p.Cys145Tyr
NM_001172626.2:c.422G>A	NP_001166097.2:p.Cys141Tyr