Canonical Allele Identifier: CA341748959

Gene: AMPD1

Linked Data

• dbSNP Id: rs1658047602
• gnomAD v3: 1-114677918-T-A
• gnomAD v4: 1-114677918-T-A
• MyVariant Identifiers: chr1:g.115220539T>A (hg19) ; chr1:g.114677918T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677918T>A , CM000663.2:g.114677918T>A	GRCh38
NC_000001.10:g.115220539T>A , CM000663.1:g.115220539T>A	GRCh37
NC_000001.9:g.115022062T>A	NCBI36
NG_008012.1:g.22638A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1204A>T	ENSP00000358551.4:p.Ile402Phe
ENST00000520113.7:c.1216A>T MANE Select	ENSP00000430075.3:p.Ile406Phe
ENST00000637080.1:c.999A>T	ENSP00000489753.1:n.999A>T
ENST00000639077.1:n.881A>T
ENST00000369538.3:c.1303A>T	ENSP00000358551.3:p.Ile435Phe
ENST00000520113.6:c.1315A>T	ENSP00000430075.2:p.Ile439Phe
NM_000036.2:c.1315A>T	NP_000027.2:p.Ile439Phe
NM_001172626.1:c.1303A>T	NP_001166097.1:p.Ile435Phe
NM_000036.3:c.1216A>T MANE Select	NP_000027.3:p.Ile406Phe
NM_001172626.2:c.1204A>T	NP_001166097.2:p.Ile402Phe