Canonical Allele Identifier: CA1020423
Gene: AMPD1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2533790
ClinVar RCV Id: RCV003291437
dbSNP Id: rs746300631
ExAC: 1:115226902 A / T
gnomAD v2: 1-115226902-A-T
gnomAD v3: 1-114684281-A-T
gnomAD v4: 1-114684281-A-T
MyVariant Identifiers: chr1:g.115226902A>T (hg19) chr1:g.114684281A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.114684281A>T , CM000663.2:g.114684281A>T GRCh38
NC_000001.10:g.115226902A>T , CM000663.1:g.115226902A>T GRCh37
NC_000001.9:g.115028425A>T NCBI36
NG_008012.1:g.16275T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369538.4:c.453T>A ENSP00000358551.4:p.Phe151Leu
ENST00000520113.7:c.465T>A MANE Select ENSP00000430075.3:p.Phe155Leu
ENST00000637080.1:c.468T>A ENSP00000489753.1:p.Phe156Leu
ENST00000639077.1:n.130T>A
ENST00000369538.3:c.552T>A ENSP00000358551.3:p.Phe184Leu
ENST00000485564.3:n.339T>A
ENST00000520113.6:c.564T>A ENSP00000430075.2:p.Phe188Leu
NM_000036.2:c.564T>A NP_000027.2:p.Phe188Leu
NM_001172626.1:c.552T>A NP_001166097.1:p.Phe184Leu
NM_000036.3:c.465T>A MANE Select NP_000027.3:p.Phe155Leu
NM_001172626.2:c.453T>A NP_001166097.2:p.Phe151Leu
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