Canonical Allele Identifier: CA341752664

Gene: AMPD1

Linked Data

• dbSNP Id: rs1658247391
• gnomAD v3: 1-114684297-T-C
• gnomAD v4: 1-114684297-T-C
• COSMIC: COSM4661427 ; COSM4661428
• MyVariant Identifiers: chr1:g.115226918T>C (hg19) ; chr1:g.114684297T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684297T>C , CM000663.2:g.114684297T>C	GRCh38
NC_000001.10:g.115226918T>C , CM000663.1:g.115226918T>C	GRCh37
NC_000001.9:g.115028441T>C	NCBI36
NG_008012.1:g.16259A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.437A>G	ENSP00000358551.4:p.Tyr146Cys
ENST00000520113.7:c.449A>G MANE Select	ENSP00000430075.3:p.Tyr150Cys
ENST00000637080.1:c.452A>G	ENSP00000489753.1:p.Tyr151Cys
ENST00000639077.1:n.114A>G
ENST00000369538.3:c.536A>G	ENSP00000358551.3:p.Tyr179Cys
ENST00000485564.3:n.323A>G
ENST00000520113.6:c.548A>G	ENSP00000430075.2:p.Tyr183Cys
NM_000036.2:c.548A>G	NP_000027.2:p.Tyr183Cys
NM_001172626.1:c.536A>G	NP_001166097.1:p.Tyr179Cys
NM_000036.3:c.449A>G MANE Select	NP_000027.3:p.Tyr150Cys
NM_001172626.2:c.437A>G	NP_001166097.2:p.Tyr146Cys