Canonical Allele Identifier: CA145620

Gene: AMPD1

Linked Data

• ClinVar Variation Id: 92334
• ClinVar RCV Id: RCV000077974 ; RCV000971866
• dbSNP Id: rs34287100
• ExAC: 1:115216557 A / G
• gnomAD v2: 1-115216557-A-G
• gnomAD v3: 1-114673936-A-G
• gnomAD v4: 1-114673936-A-G
• MyVariant Identifiers: chr1:g.115216557A>G (hg19) ; chr1:g.114673936A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114673936A>G , CM000663.2:g.114673936A>G	GRCh38
NC_000001.10:g.115216557A>G , CM000663.1:g.115216557A>G	GRCh37
NC_000001.9:g.115018080A>G	NCBI36
NG_008012.1:g.26620T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.1935T>C	ENSP00000358551.4:p.Asp645=
ENST00000520113.7:c.1947T>C MANE Select	ENSP00000430075.3:p.Asp649=
ENST00000637080.1:c.1730T>C	ENSP00000489753.1:n.1730T>C
ENST00000638214.1:n.1060T>C
ENST00000639077.1:n.1469T>C
ENST00000639274.1:n.577T>C
ENST00000369538.3:c.2034T>C	ENSP00000358551.3:p.Asp678=
ENST00000520113.6:c.2046T>C	ENSP00000430075.2:p.Asp682=
NM_000036.2:c.2046T>C	NP_000027.2:p.Asp682=
NM_001172626.1:c.2034T>C	NP_001166097.1:p.Asp678=
NM_000036.3:c.1947T>C MANE Select	NP_000027.3:p.Asp649=
NM_001172626.2:c.1935T>C	NP_001166097.2:p.Asp645=