Canonical Allele Identifier: CA341748691

Gene: AMPD1

Linked Data

• COSMIC: COSM1320117 ; COSM1320118
• MyVariant Identifiers: chr1:g.115220097A>T (hg19) ; chr1:g.114677476A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677476A>T , CM000663.2:g.114677476A>T	GRCh38
NC_000001.10:g.115220097A>T , CM000663.1:g.115220097A>T	GRCh37
NC_000001.9:g.115021620A>T	NCBI36
NG_008012.1:g.23080T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1251T>A	ENSP00000358551.4:p.His417Gln
ENST00000520113.7:c.1263T>A MANE Select	ENSP00000430075.3:p.His421Gln
ENST00000637080.1:c.1046T>A	ENSP00000489753.1:n.1046T>A
ENST00000639077.1:n.928T>A
ENST00000369538.3:c.1350T>A	ENSP00000358551.3:p.His450Gln
ENST00000520113.6:c.1362T>A	ENSP00000430075.2:p.His454Gln
NM_000036.2:c.1362T>A	NP_000027.2:p.His454Gln
NM_001172626.1:c.1350T>A	NP_001166097.1:p.His450Gln
NM_000036.3:c.1263T>A MANE Select	NP_000027.3:p.His421Gln
NM_001172626.2:c.1251T>A	NP_001166097.2:p.His417Gln