Canonical Allele Identifier: CA29055391

Gene: AMPD1

Linked Data

• dbSNP Id: rs567271778
• gnomAD v3: 1-114678002-T-G
• gnomAD v4: 1-114678002-T-G
• MyVariant Identifiers: chr1:g.115220623T>G (hg19) ; chr1:g.114678002T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114678002T>G , CM000663.2:g.114678002T>G	GRCh38
NC_000001.10:g.115220623T>G , CM000663.1:g.115220623T>G	GRCh37
NC_000001.9:g.115022146T>G	NCBI36
NG_008012.1:g.22554A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1120A>C	ENSP00000358551.4:p.Lys374Gln
ENST00000520113.7:c.1132A>C MANE Select	ENSP00000430075.3:p.Lys378Gln
ENST00000637080.1:c.915A>C	ENSP00000489753.1:n.915A>C
ENST00000639077.1:n.797A>C
ENST00000369538.3:c.1219A>C	ENSP00000358551.3:p.Lys407Gln
ENST00000520113.6:c.1231A>C	ENSP00000430075.2:p.Lys411Gln
NM_000036.2:c.1231A>C	NP_000027.2:p.Lys411Gln
NM_001172626.1:c.1219A>C	NP_001166097.1:p.Lys407Gln
NM_000036.3:c.1132A>C MANE Select	NP_000027.3:p.Lys378Gln
NM_001172626.2:c.1120A>C	NP_001166097.2:p.Lys374Gln