Canonical Allele Identifier: CA341752747

Gene: AMPD1

Linked Data

• dbSNP Id: rs561023947
• gnomAD v2: 1-115226942-C-A
• gnomAD v4: 1-114684321-C-A
• MyVariant Identifiers: chr1:g.115226942C>A (hg19) ; chr1:g.114684321C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684321C>A , CM000663.2:g.114684321C>A	GRCh38
NC_000001.10:g.115226942C>A , CM000663.1:g.115226942C>A	GRCh37
NC_000001.9:g.115028465C>A	NCBI36
NG_008012.1:g.16235G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.413G>T	ENSP00000358551.4:p.Arg138Leu
ENST00000520113.7:c.425G>T MANE Select	ENSP00000430075.3:p.Arg142Leu
ENST00000637080.1:c.428G>T	ENSP00000489753.1:p.Arg143Leu
ENST00000639077.1:n.90G>T
ENST00000369538.3:c.512G>T	ENSP00000358551.3:p.Arg171Leu
ENST00000485564.3:n.299G>T
ENST00000520113.6:c.524G>T	ENSP00000430075.2:p.Arg175Leu
NM_000036.2:c.524G>T	NP_000027.2:p.Arg175Leu
NM_001172626.1:c.512G>T	NP_001166097.1:p.Arg171Leu
NM_000036.3:c.425G>T MANE Select	NP_000027.3:p.Arg142Leu
NM_001172626.2:c.413G>T	NP_001166097.2:p.Arg138Leu