Canonical Allele Identifier: CA341752546

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226886T>A (hg19) ; chr1:g.114684265T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684265T>A , CM000663.2:g.114684265T>A	GRCh38
NC_000001.10:g.115226886T>A , CM000663.1:g.115226886T>A	GRCh37
NC_000001.9:g.115028409T>A	NCBI36
NG_008012.1:g.16291A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.469A>T	ENSP00000358551.4:p.Thr157Ser
ENST00000520113.7:c.481A>T MANE Select	ENSP00000430075.3:p.Thr161Ser
ENST00000637080.1:c.484A>T	ENSP00000489753.1:p.Thr162Ser
ENST00000639077.1:n.146A>T
ENST00000369538.3:c.568A>T	ENSP00000358551.3:p.Thr190Ser
ENST00000485564.3:n.355A>T
ENST00000520113.6:c.580A>T	ENSP00000430075.2:p.Thr194Ser
NM_000036.2:c.580A>T	NP_000027.2:p.Thr194Ser
NM_001172626.1:c.568A>T	NP_001166097.1:p.Thr190Ser
NM_000036.3:c.481A>T MANE Select	NP_000027.3:p.Thr161Ser
NM_001172626.2:c.469A>T	NP_001166097.2:p.Thr157Ser