Canonical Allele Identifier: CA419883106

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114677973-T-G
• MyVariant Identifiers: chr1:g.115220594T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677973T>G , CM000663.2:g.114677973T>G	GRCh38
NC_000001.10:g.115220594T>G , CM000663.1:g.115220594T>G	GRCh37
NC_000001.9:g.115022117T>G	NCBI36
NG_008012.1:g.22583A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1149A>C	ENSP00000358551.4:p.Leu383=
ENST00000520113.7:c.1161A>C MANE Select	ENSP00000430075.3:p.Leu387=
ENST00000637080.1:c.944A>C	ENSP00000489753.1:n.944A>C
ENST00000639077.1:n.826A>C
ENST00000369538.3:c.1248A>C	ENSP00000358551.3:p.Leu416=
ENST00000520113.6:c.1260A>C	ENSP00000430075.2:p.Leu420=
NM_000036.2:c.1260A>C	NP_000027.2:p.Leu420=
NM_001172626.1:c.1248A>C	NP_001166097.1:p.Leu416=
NM_000036.3:c.1161A>C MANE Select	NP_000027.3:p.Leu387=
NM_001172626.2:c.1149A>C	NP_001166097.2:p.Leu383=