Canonical Allele Identifier: CA341752407

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226856C>A (hg19) ; chr1:g.114684235C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684235C>A , CM000663.2:g.114684235C>A	GRCh38
NC_000001.10:g.115226856C>A , CM000663.1:g.115226856C>A	GRCh37
NC_000001.9:g.115028379C>A	NCBI36
NG_008012.1:g.16321G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.499G>T	ENSP00000358551.4:p.Gly167Cys
ENST00000520113.7:c.511G>T MANE Select	ENSP00000430075.3:p.Gly171Cys
ENST00000637080.1:c.514G>T	ENSP00000489753.1:p.Gly172Cys
ENST00000639077.1:n.176G>T
ENST00000369538.3:c.598G>T	ENSP00000358551.3:p.Gly200Cys
ENST00000485564.3:n.385G>T
ENST00000520113.6:c.610G>T	ENSP00000430075.2:p.Gly204Cys
NM_000036.2:c.610G>T	NP_000027.2:p.Gly204Cys
NM_001172626.1:c.598G>T	NP_001166097.1:p.Gly200Cys
NM_000036.3:c.511G>T MANE Select	NP_000027.3:p.Gly171Cys
NM_001172626.2:c.499G>T	NP_001166097.2:p.Gly167Cys