Canonical Allele Identifier: CA29054682

Gene: AMPD1

Linked Data

• dbSNP Id: rs955043922
• gnomAD v3: 1-114677485-C-G
• gnomAD v4: 1-114677485-C-G
• MyVariant Identifiers: chr1:g.115220106C>G (hg19) ; chr1:g.114677485C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677485C>G , CM000663.2:g.114677485C>G	GRCh38
NC_000001.10:g.115220106C>G , CM000663.1:g.115220106C>G	GRCh37
NC_000001.9:g.115021629C>G	NCBI36
NG_008012.1:g.23071G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1242G>C	ENSP00000358551.4:p.Lys414Asn
ENST00000520113.7:c.1254G>C MANE Select	ENSP00000430075.3:p.Lys418Asn
ENST00000637080.1:c.1037G>C	ENSP00000489753.1:n.1037G>C
ENST00000639077.1:n.919G>C
ENST00000369538.3:c.1341G>C	ENSP00000358551.3:p.Lys447Asn
ENST00000520113.6:c.1353G>C	ENSP00000430075.2:p.Lys451Asn
NM_000036.2:c.1353G>C	NP_000027.2:p.Lys451Asn
NM_001172626.1:c.1341G>C	NP_001166097.1:p.Lys447Asn
NM_000036.3:c.1254G>C MANE Select	NP_000027.3:p.Lys418Asn
NM_001172626.2:c.1242G>C	NP_001166097.2:p.Lys414Asn