Canonical Allele Identifier: CA419882986

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115219983A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677362A>G , CM000663.2:g.114677362A>G	GRCh38
NC_000001.10:g.115219983A>G , CM000663.1:g.115219983A>G	GRCh37
NC_000001.9:g.115021506A>G	NCBI36
NG_008012.1:g.23194T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1365T>C	ENSP00000358551.4:p.Val455=
ENST00000520113.7:c.1377T>C MANE Select	ENSP00000430075.3:p.Val459=
ENST00000637080.1:c.1160T>C	ENSP00000489753.1:n.1160T>C
ENST00000639077.1:n.1042T>C
ENST00000369538.3:c.1464T>C	ENSP00000358551.3:p.Val488=
ENST00000520113.6:c.1476T>C	ENSP00000430075.2:p.Val492=
NM_000036.2:c.1476T>C	NP_000027.2:p.Val492=
NM_001172626.1:c.1464T>C	NP_001166097.1:p.Val488=
NM_000036.3:c.1377T>C MANE Select	NP_000027.3:p.Val459=
NM_001172626.2:c.1365T>C	NP_001166097.2:p.Val455=