Canonical Allele Identifier: CA341752241

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226825T>A (hg19) ; chr1:g.114684204T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684204T>A , CM000663.2:g.114684204T>A	GRCh38
NC_000001.10:g.115226825T>A , CM000663.1:g.115226825T>A	GRCh37
NC_000001.9:g.115028348T>A	NCBI36
NG_008012.1:g.16352A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.530A>T	ENSP00000358551.4:p.Tyr177Phe
ENST00000520113.7:c.542A>T MANE Select	ENSP00000430075.3:p.Tyr181Phe
ENST00000637080.1:c.545A>T	ENSP00000489753.1:p.Tyr182Phe
ENST00000639077.1:n.207A>T
ENST00000369538.3:c.629A>T	ENSP00000358551.3:p.Tyr210Phe
ENST00000485564.3:n.416A>T
ENST00000520113.6:c.641A>T	ENSP00000430075.2:p.Tyr214Phe
NM_000036.2:c.641A>T	NP_000027.2:p.Tyr214Phe
NM_001172626.1:c.629A>T	NP_001166097.1:p.Tyr210Phe
NM_000036.3:c.542A>T MANE Select	NP_000027.3:p.Tyr181Phe
NM_001172626.2:c.530A>T	NP_001166097.2:p.Tyr177Phe