Canonical Allele Identifier: CA341752333

Gene: AMPD1

Linked Data

• ClinVar Variation Id: 3116644
• ClinVar RCV Id: RCV004414492
• MyVariant Identifiers: chr1:g.115226838T>A (hg19) ; chr1:g.114684217T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684217T>A , CM000663.2:g.114684217T>A	GRCh38
NC_000001.10:g.115226838T>A , CM000663.1:g.115226838T>A	GRCh37
NC_000001.9:g.115028361T>A	NCBI36
NG_008012.1:g.16339A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.517A>T	ENSP00000358551.4:p.Asn173Tyr
ENST00000520113.7:c.529A>T MANE Select	ENSP00000430075.3:p.Asn177Tyr
ENST00000637080.1:c.532A>T	ENSP00000489753.1:p.Asn178Tyr
ENST00000639077.1:n.194A>T
ENST00000369538.3:c.616A>T	ENSP00000358551.3:p.Asn206Tyr
ENST00000485564.3:n.403A>T
ENST00000520113.6:c.628A>T	ENSP00000430075.2:p.Asn210Tyr
NM_000036.2:c.628A>T	NP_000027.2:p.Asn210Tyr
NM_001172626.1:c.616A>T	NP_001166097.1:p.Asn206Tyr
NM_000036.3:c.529A>T MANE Select	NP_000027.3:p.Asn177Tyr
NM_001172626.2:c.517A>T	NP_001166097.2:p.Asn173Tyr