Canonical Allele Identifier: CA341748410

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115220011C>A (hg19) ; chr1:g.114677390C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677390C>A , CM000663.2:g.114677390C>A	GRCh38
NC_000001.10:g.115220011C>A , CM000663.1:g.115220011C>A	GRCh37
NC_000001.9:g.115021534C>A	NCBI36
NG_008012.1:g.23166G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1337G>T	ENSP00000358551.4:p.Cys446Phe
ENST00000520113.7:c.1349G>T MANE Select	ENSP00000430075.3:p.Cys450Phe
ENST00000637080.1:c.1132G>T	ENSP00000489753.1:n.1132G>T
ENST00000639077.1:n.1014G>T
ENST00000369538.3:c.1436G>T	ENSP00000358551.3:p.Cys479Phe
ENST00000520113.6:c.1448G>T	ENSP00000430075.2:p.Cys483Phe
NM_000036.2:c.1448G>T	NP_000027.2:p.Cys483Phe
NM_001172626.1:c.1436G>T	NP_001166097.1:p.Cys479Phe
NM_000036.3:c.1349G>T MANE Select	NP_000027.3:p.Cys450Phe
NM_001172626.2:c.1337G>T	NP_001166097.2:p.Cys446Phe