Canonical Allele Identifier: CA341750101

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115222258A>T (hg19) ; chr1:g.114679637A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679637A>T , CM000663.2:g.114679637A>T	GRCh38
NC_000001.10:g.115222258A>T , CM000663.1:g.115222258A>T	GRCh37
NC_000001.9:g.115023781A>T	NCBI36
NG_008012.1:g.20919T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.827T>A	ENSP00000358551.4:p.Met276Lys
ENST00000520113.7:c.839T>A MANE Select	ENSP00000430075.3:p.Met280Lys
ENST00000637080.1:c.622T>A	ENSP00000489753.1:n.622T>A
ENST00000639077.1:n.504T>A
ENST00000369538.3:c.926T>A	ENSP00000358551.3:p.Met309Lys
ENST00000520113.6:c.938T>A	ENSP00000430075.2:p.Met313Lys
NM_000036.2:c.938T>A	NP_000027.2:p.Met313Lys
NM_001172626.1:c.926T>A	NP_001166097.1:p.Met309Lys
NM_000036.3:c.839T>A MANE Select	NP_000027.3:p.Met280Lys
NM_001172626.2:c.827T>A	NP_001166097.2:p.Met276Lys