Canonical Allele Identifier: CA341752191

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226818A>C (hg19) ; chr1:g.114684197A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684197A>C , CM000663.2:g.114684197A>C	GRCh38
NC_000001.10:g.115226818A>C , CM000663.1:g.115226818A>C	GRCh37
NC_000001.9:g.115028341A>C	NCBI36
NG_008012.1:g.16359T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.535+2T>G	ENSP00000358551.4:n.535+2T>G
ENST00000520113.7:c.547+2T>G MANE Select	ENSP00000430075.3:n.547+2T>G
ENST00000637080.1:c.550+2T>G	ENSP00000489753.1:n.550+2T>G
ENST00000639077.1:n.212+2T>G
ENST00000369538.3:c.634+2T>G	ENSP00000358551.3:n.634+2T>G
ENST00000485564.3:n.421+2T>G
ENST00000520113.6:c.646+2T>G	ENSP00000430075.2:n.646+2T>G
NM_000036.2:c.646+2T>G	NP_000027.2:n.646+2T>G
NM_001172626.1:c.634+2T>G	NP_001166097.1:n.634+2T>G
NM_000036.3:c.547+2T>G MANE Select	NP_000027.3:n.547+2T>G
NM_001172626.2:c.535+2T>G	NP_001166097.2:n.535+2T>G