Canonical Allele Identifier: CA419883068

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115220127A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677506A>G , CM000663.2:g.114677506A>G	GRCh38
NC_000001.10:g.115220127A>G , CM000663.1:g.115220127A>G	GRCh37
NC_000001.9:g.115021650A>G	NCBI36
NG_008012.1:g.23050T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1221T>C	ENSP00000358551.4:p.Gly407=
ENST00000520113.7:c.1233T>C MANE Select	ENSP00000430075.3:p.Gly411=
ENST00000637080.1:c.1016T>C	ENSP00000489753.1:n.1016T>C
ENST00000639077.1:n.898T>C
ENST00000369538.3:c.1320T>C	ENSP00000358551.3:p.Gly440=
ENST00000520113.6:c.1332T>C	ENSP00000430075.2:p.Gly444=
NM_000036.2:c.1332T>C	NP_000027.2:p.Gly444=
NM_001172626.1:c.1320T>C	NP_001166097.1:p.Gly440=
NM_000036.3:c.1233T>C MANE Select	NP_000027.3:p.Gly411=
NM_001172626.2:c.1221T>C	NP_001166097.2:p.Gly407=