Canonical Allele Identifier: CA341748416

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114677391-A-G
• MyVariant Identifiers: chr1:g.115220012A>G (hg19) ; chr1:g.114677391A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1336T>C	ENSP00000358551.4:p.Cys446Arg
ENST00000520113.7:c.1348T>C MANE Select	ENSP00000430075.3:p.Cys450Arg
ENST00000637080.1:c.1131T>C	ENSP00000489753.1:n.1131T>C
ENST00000639077.1:n.1013T>C
ENST00000369538.3:c.1435T>C	ENSP00000358551.3:p.Cys479Arg
ENST00000520113.6:c.1447T>C	ENSP00000430075.2:p.Cys483Arg
NM_000036.2:c.1447T>C	NP_000027.2:p.Cys483Arg
NM_001172626.1:c.1435T>C	NP_001166097.1:p.Cys479Arg
NM_000036.3:c.1348T>C MANE Select	NP_000027.3:p.Cys450Arg
NM_001172626.2:c.1336T>C	NP_001166097.2:p.Cys446Arg