Canonical Allele Identifier: CA341752878

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226979C>A (hg19) ; chr1:g.114684358C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684358C>A , CM000663.2:g.114684358C>A	GRCh38
NC_000001.10:g.115226979C>A , CM000663.1:g.115226979C>A	GRCh37
NC_000001.9:g.115028502C>A	NCBI36
NG_008012.1:g.16198G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.376G>T	ENSP00000358551.4:p.Val126Phe
ENST00000520113.7:c.388G>T MANE Select	ENSP00000430075.3:p.Val130Phe
ENST00000637080.1:c.391G>T	ENSP00000489753.1:p.Val131Phe
ENST00000639077.1:n.53G>T
ENST00000369538.3:c.475G>T	ENSP00000358551.3:p.Val159Phe
ENST00000485564.3:n.262G>T
ENST00000520113.6:c.487G>T	ENSP00000430075.2:p.Val163Phe
NM_000036.2:c.487G>T	NP_000027.2:p.Val163Phe
NM_001172626.1:c.475G>T	NP_001166097.1:p.Val159Phe
NM_000036.3:c.388G>T MANE Select	NP_000027.3:p.Val130Phe
NM_001172626.2:c.376G>T	NP_001166097.2:p.Val126Phe