Canonical Allele Identifier: CA419883263

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114679579-C-T
• MyVariant Identifiers: chr1:g.115222200C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679579C>T , CM000663.2:g.114679579C>T	GRCh38
NC_000001.10:g.115222200C>T , CM000663.1:g.115222200C>T	GRCh37
NC_000001.9:g.115023723C>T	NCBI36
NG_008012.1:g.20977G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.885G>A	ENSP00000358551.4:p.Lys295=
ENST00000520113.7:c.897G>A MANE Select	ENSP00000430075.3:p.Lys299=
ENST00000637080.1:c.680G>A	ENSP00000489753.1:n.680G>A
ENST00000639077.1:n.562G>A
ENST00000369538.3:c.984G>A	ENSP00000358551.3:p.Lys328=
ENST00000520113.6:c.996G>A	ENSP00000430075.2:p.Lys332=
NM_000036.2:c.996G>A	NP_000027.2:p.Lys332=
NM_001172626.1:c.984G>A	NP_001166097.1:p.Lys328=
NM_000036.3:c.897G>A MANE Select	NP_000027.3:p.Lys299=
NM_001172626.2:c.885G>A	NP_001166097.2:p.Lys295=