Canonical Allele Identifier: CA341748414

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115220012A>C (hg19) ; chr1:g.114677391A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677391A>C , CM000663.2:g.114677391A>C	GRCh38
NC_000001.10:g.115220012A>C , CM000663.1:g.115220012A>C	GRCh37
NC_000001.9:g.115021535A>C	NCBI36
NG_008012.1:g.23165T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1336T>G	ENSP00000358551.4:p.Cys446Gly
ENST00000520113.7:c.1348T>G MANE Select	ENSP00000430075.3:p.Cys450Gly
ENST00000637080.1:c.1131T>G	ENSP00000489753.1:n.1131T>G
ENST00000639077.1:n.1013T>G
ENST00000369538.3:c.1435T>G	ENSP00000358551.3:p.Cys479Gly
ENST00000520113.6:c.1447T>G	ENSP00000430075.2:p.Cys483Gly
NM_000036.2:c.1447T>G	NP_000027.2:p.Cys483Gly
NM_001172626.1:c.1435T>G	NP_001166097.1:p.Cys479Gly
NM_000036.3:c.1348T>G MANE Select	NP_000027.3:p.Cys450Gly
NM_001172626.2:c.1336T>G	NP_001166097.2:p.Cys446Gly