Canonical Allele Identifier: CA419883498

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226884G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684263G>C , CM000663.2:g.114684263G>C	GRCh38
NC_000001.10:g.115226884G>C , CM000663.1:g.115226884G>C	GRCh37
NC_000001.9:g.115028407G>C	NCBI36
NG_008012.1:g.16293C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.471C>G	ENSP00000358551.4:p.Thr157=
ENST00000520113.7:c.483C>G MANE Select	ENSP00000430075.3:p.Thr161=
ENST00000637080.1:c.486C>G	ENSP00000489753.1:p.Thr162=
ENST00000639077.1:n.148C>G
ENST00000369538.3:c.570C>G	ENSP00000358551.3:p.Thr190=
ENST00000485564.3:n.357C>G
ENST00000520113.6:c.582C>G	ENSP00000430075.2:p.Thr194=
NM_000036.2:c.582C>G	NP_000027.2:p.Thr194=
NM_001172626.1:c.570C>G	NP_001166097.1:p.Thr190=
NM_000036.3:c.483C>G MANE Select	NP_000027.3:p.Thr161=
NM_001172626.2:c.471C>G	NP_001166097.2:p.Thr157=