Canonical Allele Identifier: CA419883283

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114679620-G-A
• MyVariant Identifiers: chr1:g.115222241G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679620G>A , CM000663.2:g.114679620G>A	GRCh38
NC_000001.10:g.115222241G>A , CM000663.1:g.115222241G>A	GRCh37
NC_000001.9:g.115023764G>A	NCBI36
NG_008012.1:g.20936C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.844C>T	ENSP00000358551.4:p.Leu282=
ENST00000520113.7:c.856C>T MANE Select	ENSP00000430075.3:p.Leu286=
ENST00000637080.1:c.639C>T	ENSP00000489753.1:n.639C>T
ENST00000639077.1:n.521C>T
ENST00000369538.3:c.943C>T	ENSP00000358551.3:p.Leu315=
ENST00000520113.6:c.955C>T	ENSP00000430075.2:p.Leu319=
NM_000036.2:c.955C>T	NP_000027.2:p.Leu319=
NM_001172626.1:c.943C>T	NP_001166097.1:p.Leu315=
NM_000036.3:c.856C>T MANE Select	NP_000027.3:p.Leu286=
NM_001172626.2:c.844C>T	NP_001166097.2:p.Leu282=