Canonical Allele Identifier: CA341750166

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114679663-G-T
• MyVariant Identifiers: chr1:g.115222284G>T (hg19) ; chr1:g.114679663G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679663G>T , CM000663.2:g.114679663G>T	GRCh38
NC_000001.10:g.115222284G>T , CM000663.1:g.115222284G>T	GRCh37
NC_000001.9:g.115023807G>T	NCBI36
NG_008012.1:g.20893C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.801C>A	ENSP00000358551.4:p.Phe267Leu
ENST00000520113.7:c.813C>A MANE Select	ENSP00000430075.3:p.Phe271Leu
ENST00000637080.1:c.596C>A	ENSP00000489753.1:n.596C>A
ENST00000639077.1:n.478C>A
ENST00000369538.3:c.900C>A	ENSP00000358551.3:p.Phe300Leu
ENST00000520113.6:c.912C>A	ENSP00000430075.2:p.Phe304Leu
NM_000036.2:c.912C>A	NP_000027.2:p.Phe304Leu
NM_001172626.1:c.900C>A	NP_001166097.1:p.Phe300Leu
NM_000036.3:c.813C>A MANE Select	NP_000027.3:p.Phe271Leu
NM_001172626.2:c.801C>A	NP_001166097.2:p.Phe267Leu