Canonical Allele Identifier: CA341752516

Gene: AMPD1

Linked Data

• COSMIC: COSM3801370 ; COSM3801371
• MyVariant Identifiers: chr1:g.115226879G>A (hg19) ; chr1:g.114684258G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684258G>A , CM000663.2:g.114684258G>A	GRCh38
NC_000001.10:g.115226879G>A , CM000663.1:g.115226879G>A	GRCh37
NC_000001.9:g.115028402G>A	NCBI36
NG_008012.1:g.16298C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.476C>T	ENSP00000358551.4:p.Ser159Phe
ENST00000520113.7:c.488C>T MANE Select	ENSP00000430075.3:p.Ser163Phe
ENST00000637080.1:c.491C>T	ENSP00000489753.1:p.Ser164Phe
ENST00000639077.1:n.153C>T
ENST00000369538.3:c.575C>T	ENSP00000358551.3:p.Ser192Phe
ENST00000485564.3:n.362C>T
ENST00000520113.6:c.587C>T	ENSP00000430075.2:p.Ser196Phe
NM_000036.2:c.587C>T	NP_000027.2:p.Ser196Phe
NM_001172626.1:c.575C>T	NP_001166097.1:p.Ser192Phe
NM_000036.3:c.488C>T MANE Select	NP_000027.3:p.Ser163Phe
NM_001172626.2:c.476C>T	NP_001166097.2:p.Ser159Phe