Canonical Allele Identifier: CA419883062

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115220118C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677497C>G , CM000663.2:g.114677497C>G	GRCh38
NC_000001.10:g.115220118C>G , CM000663.1:g.115220118C>G	GRCh37
NC_000001.9:g.115021641C>G	NCBI36
NG_008012.1:g.23059G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1230G>C	ENSP00000358551.4:p.Leu410=
ENST00000520113.7:c.1242G>C MANE Select	ENSP00000430075.3:p.Leu414=
ENST00000637080.1:c.1025G>C	ENSP00000489753.1:n.1025G>C
ENST00000639077.1:n.907G>C
ENST00000369538.3:c.1329G>C	ENSP00000358551.3:p.Leu443=
ENST00000520113.6:c.1341G>C	ENSP00000430075.2:p.Leu447=
NM_000036.2:c.1341G>C	NP_000027.2:p.Leu447=
NM_001172626.1:c.1329G>C	NP_001166097.1:p.Leu443=
NM_000036.3:c.1242G>C MANE Select	NP_000027.3:p.Leu414=
NM_001172626.2:c.1230G>C	NP_001166097.2:p.Leu410=