Canonical Allele Identifier: CA341752906

Gene: AMPD1

Linked Data

• gnomAD v4: 1-114684366-T-C
• MyVariant Identifiers: chr1:g.115226987T>C (hg19) ; chr1:g.114684366T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684366T>C , CM000663.2:g.114684366T>C	GRCh38
NC_000001.10:g.115226987T>C , CM000663.1:g.115226987T>C	GRCh37
NC_000001.9:g.115028510T>C	NCBI36
NG_008012.1:g.16190A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.370-2A>G	ENSP00000358551.4:n.370-2A>G
ENST00000520113.7:c.382-2A>G MANE Select	ENSP00000430075.3:n.382-2A>G
ENST00000637080.1:c.385-2A>G	ENSP00000489753.1:n.385-2A>G
ENST00000639077.1:n.47-2A>G
ENST00000369538.3:c.469-2A>G	ENSP00000358551.3:n.469-2A>G
ENST00000485564.3:n.256-2A>G
ENST00000520113.6:c.481-2A>G	ENSP00000430075.2:n.481-2A>G
NM_000036.2:c.481-2A>G	NP_000027.2:n.481-2A>G
NM_001172626.1:c.469-2A>G	NP_001166097.1:n.469-2A>G
NM_000036.3:c.382-2A>G MANE Select	NP_000027.3:n.382-2A>G
NM_001172626.2:c.370-2A>G	NP_001166097.2:n.370-2A>G