Canonical Allele Identifier: CA885821031

Gene: AMPD1

Linked Data

• dbSNP Id: rs1290733812
• gnomAD v3: 1-114693362-C-T
• gnomAD v4: 1-114693362-C-T
• MyVariant Identifiers: chr1:g.115235983C>T (hg19) ; chr1:g.114693362C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114693362C>T , CM000663.2:g.114693362C>T	GRCh38
NC_000001.10:g.115235983C>T , CM000663.1:g.115235983C>T	GRCh37
NC_000001.9:g.115037506C>T	NCBI36
NG_008012.1:g.7194G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.22+2088G>A	ENSP00000358551.4:n.22+2088G>A
ENST00000520113.7:c.34+74G>A MANE Select	ENSP00000430075.3:n.34+74G>A
ENST00000637080.1:c.37+2075G>A	ENSP00000489753.1:n.37+2075G>A
ENST00000369538.3:c.121+2088G>A	ENSP00000358551.3:n.121+2088G>A
ENST00000520113.6:c.133+74G>A	ENSP00000430075.2:n.133+74G>A
NM_000036.2:c.133+74G>A	NP_000027.2:n.133+74G>A
NM_001172626.1:c.121+2088G>A	NP_001166097.1:n.121+2088G>A
NM_000036.3:c.34+74G>A MANE Select	NP_000027.3:n.34+74G>A
NM_001172626.2:c.22+2088G>A	NP_001166097.2:n.22+2088G>A