Canonical Allele Identifier: CA341752763

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226946A>T (hg19) ; chr1:g.114684325A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684325A>T , CM000663.2:g.114684325A>T	GRCh38
NC_000001.10:g.115226946A>T , CM000663.1:g.115226946A>T	GRCh37
NC_000001.9:g.115028469A>T	NCBI36
NG_008012.1:g.16231T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.409T>A	ENSP00000358551.4:p.Tyr137Asn
ENST00000520113.7:c.421T>A MANE Select	ENSP00000430075.3:p.Tyr141Asn
ENST00000637080.1:c.424T>A	ENSP00000489753.1:p.Tyr142Asn
ENST00000639077.1:n.86T>A
ENST00000369538.3:c.508T>A	ENSP00000358551.3:p.Tyr170Asn
ENST00000485564.3:n.295T>A
ENST00000520113.6:c.520T>A	ENSP00000430075.2:p.Tyr174Asn
NM_000036.2:c.520T>A	NP_000027.2:p.Tyr174Asn
NM_001172626.1:c.508T>A	NP_001166097.1:p.Tyr170Asn
NM_000036.3:c.421T>A MANE Select	NP_000027.3:p.Tyr141Asn
NM_001172626.2:c.409T>A	NP_001166097.2:p.Tyr137Asn