Canonical Allele Identifier: CA1020416
Gene: AMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 559258
ClinVar RCV Id: RCV000676656 RCV001078990
dbSNP Id: rs142582318
ExAC: 1:115226855 C / T
gnomAD v2: 1-115226855-C-T
gnomAD v3: 1-114684234-C-T
gnomAD v4: 1-114684234-C-T
MyVariant Identifiers: chr1:g.115226855C>T (hg19) chr1:g.114684234C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114684234C>T , CM000663.2:g.114684234C>T GRCh38
NC_000001.10:g.115226855C>T , CM000663.1:g.115226855C>T GRCh37
NC_000001.9:g.115028378C>T NCBI36
NG_008012.1:g.16322G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.500G>A ENSP00000358551.4:p.Gly167Asp
ENST00000520113.7:c.512G>A MANE Select ENSP00000430075.3:p.Gly171Asp
ENST00000637080.1:c.515G>A ENSP00000489753.1:p.Gly172Asp
ENST00000639077.1:n.177G>A
ENST00000369538.3:c.599G>A ENSP00000358551.3:p.Gly200Asp
ENST00000485564.3:n.386G>A
ENST00000520113.6:c.611G>A ENSP00000430075.2:p.Gly204Asp
NM_000036.2:c.611G>A NP_000027.2:p.Gly204Asp
NM_001172626.1:c.599G>A NP_001166097.1:p.Gly200Asp
NM_000036.3:c.512G>A MANE Select NP_000027.3:p.Gly171Asp
NM_001172626.2:c.500G>A NP_001166097.2:p.Gly167Asp
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