Canonical Allele Identifier: CA341750209

Gene: AMPD1

Linked Data

• dbSNP Id: rs1158490898
• gnomAD v2: 1-115222303-T-C
• gnomAD v3: 1-114679682-T-C
• gnomAD v4: 1-114679682-T-C
• MyVariant Identifiers: chr1:g.115222303T>C (hg19) ; chr1:g.114679682T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679682T>C , CM000663.2:g.114679682T>C	GRCh38
NC_000001.10:g.115222303T>C , CM000663.1:g.115222303T>C	GRCh37
NC_000001.9:g.115023826T>C	NCBI36
NG_008012.1:g.20874A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.782A>G	ENSP00000358551.4:p.Lys261Arg
ENST00000520113.7:c.794A>G MANE Select	ENSP00000430075.3:p.Lys265Arg
ENST00000637080.1:c.577A>G	ENSP00000489753.1:n.577A>G
ENST00000639077.1:n.459A>G
ENST00000369538.3:c.881A>G	ENSP00000358551.3:p.Lys294Arg
ENST00000520113.6:c.893A>G	ENSP00000430075.2:p.Lys298Arg
NM_000036.2:c.893A>G	NP_000027.2:p.Lys298Arg
NM_001172626.1:c.881A>G	NP_001166097.1:p.Lys294Arg
NM_000036.3:c.794A>G MANE Select	NP_000027.3:p.Lys265Arg
NM_001172626.2:c.782A>G	NP_001166097.2:p.Lys261Arg