Canonical Allele Identifier: CA341750095

Gene: AMPD1

Linked Data

• dbSNP Id: rs1346675408
• gnomAD v3: 1-114679635-C-A
• gnomAD v4: 1-114679635-C-A
• MyVariant Identifiers: chr1:g.115222256C>A (hg19) ; chr1:g.114679635C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114679635C>A , CM000663.2:g.114679635C>A	GRCh38
NC_000001.10:g.115222256C>A , CM000663.1:g.115222256C>A	GRCh37
NC_000001.9:g.115023779C>A	NCBI36
NG_008012.1:g.20921G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.829G>T	ENSP00000358551.4:p.Asp277Tyr
ENST00000520113.7:c.841G>T MANE Select	ENSP00000430075.3:p.Asp281Tyr
ENST00000637080.1:c.624G>T	ENSP00000489753.1:n.624G>T
ENST00000639077.1:n.506G>T
ENST00000369538.3:c.928G>T	ENSP00000358551.3:p.Asp310Tyr
ENST00000520113.6:c.940G>T	ENSP00000430075.2:p.Asp314Tyr
NM_000036.2:c.940G>T	NP_000027.2:p.Asp314Tyr
NM_001172626.1:c.928G>T	NP_001166097.1:p.Asp310Tyr
NM_000036.3:c.841G>T MANE Select	NP_000027.3:p.Asp281Tyr
NM_001172626.2:c.829G>T	NP_001166097.2:p.Asp277Tyr