Canonical Allele Identifier: CA419883538

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226953T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684332T>C , CM000663.2:g.114684332T>C	GRCh38
NC_000001.10:g.115226953T>C , CM000663.1:g.115226953T>C	GRCh37
NC_000001.9:g.115028476T>C	NCBI36
NG_008012.1:g.16224A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.402A>G	ENSP00000358551.4:p.Lys134=
ENST00000520113.7:c.414A>G MANE Select	ENSP00000430075.3:p.Lys138=
ENST00000637080.1:c.417A>G	ENSP00000489753.1:p.Lys139=
ENST00000639077.1:n.79A>G
ENST00000369538.3:c.501A>G	ENSP00000358551.3:p.Lys167=
ENST00000485564.3:n.288A>G
ENST00000520113.6:c.513A>G	ENSP00000430075.2:p.Lys171=
NM_000036.2:c.513A>G	NP_000027.2:p.Lys171=
NM_001172626.1:c.501A>G	NP_001166097.1:p.Lys167=
NM_000036.3:c.414A>G MANE Select	NP_000027.3:p.Lys138=
NM_001172626.2:c.402A>G	NP_001166097.2:p.Lys134=