Canonical Allele Identifier: CA419882996

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115220007G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677386G>C , CM000663.2:g.114677386G>C	GRCh38
NC_000001.10:g.115220007G>C , CM000663.1:g.115220007G>C	GRCh37
NC_000001.9:g.115021530G>C	NCBI36
NG_008012.1:g.23170C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1341C>G	ENSP00000358551.4:p.Pro447=
ENST00000520113.7:c.1353C>G MANE Select	ENSP00000430075.3:p.Pro451=
ENST00000637080.1:c.1136C>G	ENSP00000489753.1:n.1136C>G
ENST00000639077.1:n.1018C>G
ENST00000369538.3:c.1440C>G	ENSP00000358551.3:p.Pro480=
ENST00000520113.6:c.1452C>G	ENSP00000430075.2:p.Pro484=
NM_000036.2:c.1452C>G	NP_000027.2:p.Pro484=
NM_001172626.1:c.1440C>G	NP_001166097.1:p.Pro480=
NM_000036.3:c.1353C>G MANE Select	NP_000027.3:p.Pro451=
NM_001172626.2:c.1341C>G	NP_001166097.2:p.Pro447=