Canonical Allele Identifier: CA341735175

Gene: AMPD1

Linked Data

• COSMIC: COSM1294762 ; COSM1294763
• MyVariant Identifiers: chr1:g.115236063C>A (hg19) ; chr1:g.114693442C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114693442C>A , CM000663.2:g.114693442C>A	GRCh38
NC_000001.10:g.115236063C>A , CM000663.1:g.115236063C>A	GRCh37
NC_000001.9:g.115037586C>A	NCBI36
NG_008012.1:g.7114G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.22+2008G>T	ENSP00000358551.4:n.22+2008G>T
ENST00000520113.7:c.28G>T MANE Select	ENSP00000430075.3:p.Glu10Ter
ENST00000637080.1:c.37+1995G>T	ENSP00000489753.1:n.37+1995G>T
ENST00000369538.3:c.121+2008G>T	ENSP00000358551.3:n.121+2008G>T
ENST00000520113.6:c.127G>T	ENSP00000430075.2:p.Glu43Ter
NM_000036.2:c.127G>T	NP_000027.2:p.Glu43Ter
NM_001172626.1:c.121+2008G>T	NP_001166097.1:n.121+2008G>T
NM_000036.3:c.28G>T MANE Select	NP_000027.3:p.Glu10Ter
NM_001172626.2:c.22+2008G>T	NP_001166097.2:n.22+2008G>T