Canonical Allele Identifier: CA341752550

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115226887T>G (hg19) ; chr1:g.114684266T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684266T>G , CM000663.2:g.114684266T>G	GRCh38
NC_000001.10:g.115226887T>G , CM000663.1:g.115226887T>G	GRCh37
NC_000001.9:g.115028410T>G	NCBI36
NG_008012.1:g.16290A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.468A>C	ENSP00000358551.4:p.Lys156Asn
ENST00000520113.7:c.480A>C MANE Select	ENSP00000430075.3:p.Lys160Asn
ENST00000637080.1:c.483A>C	ENSP00000489753.1:p.Lys161Asn
ENST00000639077.1:n.145A>C
ENST00000369538.3:c.567A>C	ENSP00000358551.3:p.Lys189Asn
ENST00000485564.3:n.354A>C
ENST00000520113.6:c.579A>C	ENSP00000430075.2:p.Lys193Asn
NM_000036.2:c.579A>C	NP_000027.2:p.Lys193Asn
NM_001172626.1:c.567A>C	NP_001166097.1:p.Lys189Asn
NM_000036.3:c.480A>C MANE Select	NP_000027.3:p.Lys160Asn
NM_001172626.2:c.468A>C	NP_001166097.2:p.Lys156Asn