Canonical Allele Identifier: CA1020433

Gene: AMPD1

Linked Data

• ClinVar Variation Id: 291933
• ClinVar RCV Id: RCV001336067
• dbSNP Id: rs369963978
• ExAC: 1:115226943 G / A
• gnomAD v2: 1-115226943-G-A
• gnomAD v3: 1-114684322-G-A
• gnomAD v4: 1-114684322-G-A
• MyVariant Identifiers: chr1:g.115226943G>A (hg19) ; chr1:g.114684322G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684322G>A , CM000663.2:g.114684322G>A	GRCh38
NC_000001.10:g.115226943G>A , CM000663.1:g.115226943G>A	GRCh37
NC_000001.9:g.115028466G>A	NCBI36
NG_008012.1:g.16234C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.412C>T	ENSP00000358551.4:p.Arg138Trp
ENST00000520113.7:c.424C>T MANE Select	ENSP00000430075.3:p.Arg142Trp
ENST00000637080.1:c.427C>T	ENSP00000489753.1:p.Arg143Trp
ENST00000639077.1:n.89C>T
ENST00000369538.3:c.511C>T	ENSP00000358551.3:p.Arg171Trp
ENST00000485564.3:n.298C>T
ENST00000520113.6:c.523C>T	ENSP00000430075.2:p.Arg175Trp
NM_000036.2:c.523C>T	NP_000027.2:p.Arg175Trp
NM_001172626.1:c.511C>T	NP_001166097.1:p.Arg171Trp
NM_000036.3:c.424C>T MANE Select	NP_000027.3:p.Arg142Trp
NM_001172626.2:c.412C>T	NP_001166097.2:p.Arg138Trp