Canonical Allele Identifier: CA341752781

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226953T>A (hg19) ; chr1:g.114684332T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684332T>A , CM000663.2:g.114684332T>A	GRCh38
NC_000001.10:g.115226953T>A , CM000663.1:g.115226953T>A	GRCh37
NC_000001.9:g.115028476T>A	NCBI36
NG_008012.1:g.16224A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.402A>T	ENSP00000358551.4:p.Lys134Asn
ENST00000520113.7:c.414A>T MANE Select	ENSP00000430075.3:p.Lys138Asn
ENST00000637080.1:c.417A>T	ENSP00000489753.1:p.Lys139Asn
ENST00000639077.1:n.79A>T
ENST00000369538.3:c.501A>T	ENSP00000358551.3:p.Lys167Asn
ENST00000485564.3:n.288A>T
ENST00000520113.6:c.513A>T	ENSP00000430075.2:p.Lys171Asn
NM_000036.2:c.513A>T	NP_000027.2:p.Lys171Asn
NM_001172626.1:c.501A>T	NP_001166097.1:p.Lys167Asn
NM_000036.3:c.414A>T MANE Select	NP_000027.3:p.Lys138Asn
NM_001172626.2:c.402A>T	NP_001166097.2:p.Lys134Asn