Canonical Allele Identifier: CA341752719

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226932G>C (hg19) ; chr1:g.114684311G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684311G>C , CM000663.2:g.114684311G>C	GRCh38
NC_000001.10:g.115226932G>C , CM000663.1:g.115226932G>C	GRCh37
NC_000001.9:g.115028455G>C	NCBI36
NG_008012.1:g.16245C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.423C>G	ENSP00000358551.4:p.Cys141Trp
ENST00000520113.7:c.435C>G MANE Select	ENSP00000430075.3:p.Cys145Trp
ENST00000637080.1:c.438C>G	ENSP00000489753.1:p.Cys146Trp
ENST00000639077.1:n.100C>G
ENST00000369538.3:c.522C>G	ENSP00000358551.3:p.Cys174Trp
ENST00000485564.3:n.309C>G
ENST00000520113.6:c.534C>G	ENSP00000430075.2:p.Cys178Trp
NM_000036.2:c.534C>G	NP_000027.2:p.Cys178Trp
NM_001172626.1:c.522C>G	NP_001166097.1:p.Cys174Trp
NM_000036.3:c.435C>G MANE Select	NP_000027.3:p.Cys145Trp
NM_001172626.2:c.423C>G	NP_001166097.2:p.Cys141Trp