Canonical Allele Identifier: CA341752706

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226928G>T (hg19) ; chr1:g.114684307G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684307G>T , CM000663.2:g.114684307G>T	GRCh38
NC_000001.10:g.115226928G>T , CM000663.1:g.115226928G>T	GRCh37
NC_000001.9:g.115028451G>T	NCBI36
NG_008012.1:g.16249C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.427C>A	ENSP00000358551.4:p.Arg143Ser
ENST00000520113.7:c.439C>A MANE Select	ENSP00000430075.3:p.Arg147Ser
ENST00000637080.1:c.442C>A	ENSP00000489753.1:p.Arg148Ser
ENST00000639077.1:n.104C>A
ENST00000369538.3:c.526C>A	ENSP00000358551.3:p.Arg176Ser
ENST00000485564.3:n.313C>A
ENST00000520113.6:c.538C>A	ENSP00000430075.2:p.Arg180Ser
NM_000036.2:c.538C>A	NP_000027.2:p.Arg180Ser
NM_001172626.1:c.526C>A	NP_001166097.1:p.Arg176Ser
NM_000036.3:c.439C>A MANE Select	NP_000027.3:p.Arg147Ser
NM_001172626.2:c.427C>A	NP_001166097.2:p.Arg143Ser