Canonical Allele Identifier: CA1020438

Gene: AMPD1

Linked Data

• dbSNP Id: rs752348579
• ExAC: 1:115226982 T / C
• gnomAD v2: 1-115226982-T-C
• gnomAD v4: 1-114684361-T-C
• MyVariant Identifiers: chr1:g.115226982T>C (hg19) ; chr1:g.114684361T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684361T>C , CM000663.2:g.114684361T>C	GRCh38
NC_000001.10:g.115226982T>C , CM000663.1:g.115226982T>C	GRCh37
NC_000001.9:g.115028505T>C	NCBI36
NG_008012.1:g.16195A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.373A>G	ENSP00000358551.4:p.Thr125Ala
ENST00000520113.7:c.385A>G MANE Select	ENSP00000430075.3:p.Thr129Ala
ENST00000637080.1:c.388A>G	ENSP00000489753.1:p.Thr130Ala
ENST00000639077.1:n.50A>G
ENST00000369538.3:c.472A>G	ENSP00000358551.3:p.Thr158Ala
ENST00000485564.3:n.259A>G
ENST00000520113.6:c.484A>G	ENSP00000430075.2:p.Thr162Ala
NM_000036.2:c.484A>G	NP_000027.2:p.Thr162Ala
NM_001172626.1:c.472A>G	NP_001166097.1:p.Thr158Ala
NM_000036.3:c.385A>G MANE Select	NP_000027.3:p.Thr129Ala
NM_001172626.2:c.373A>G	NP_001166097.2:p.Thr125Ala