Canonical Allele Identifier: CA341752483

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226870A>T (hg19) ; chr1:g.114684249A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684249A>T , CM000663.2:g.114684249A>T	GRCh38
NC_000001.10:g.115226870A>T , CM000663.1:g.115226870A>T	GRCh37
NC_000001.9:g.115028393A>T	NCBI36
NG_008012.1:g.16307T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.485T>A	ENSP00000358551.4:p.Leu162Ter
ENST00000520113.7:c.497T>A MANE Select	ENSP00000430075.3:p.Leu166Ter
ENST00000637080.1:c.500T>A	ENSP00000489753.1:p.Leu167Ter
ENST00000639077.1:n.162T>A
ENST00000369538.3:c.584T>A	ENSP00000358551.3:p.Leu195Ter
ENST00000485564.3:n.371T>A
ENST00000520113.6:c.596T>A	ENSP00000430075.2:p.Leu199Ter
NM_000036.2:c.596T>A	NP_000027.2:p.Leu199Ter
NM_001172626.1:c.584T>A	NP_001166097.1:p.Leu195Ter
NM_000036.3:c.497T>A MANE Select	NP_000027.3:p.Leu166Ter
NM_001172626.2:c.485T>A	NP_001166097.2:p.Leu162Ter