Canonical Allele Identifier: CA29059937

Gene: AMPD1

Linked Data

• dbSNP Id: rs993418606
• gnomAD v4: 1-114684223-C-T
• MyVariant Identifiers: chr1:g.115226844C>T (hg19) ; chr1:g.114684223C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684223C>T , CM000663.2:g.114684223C>T	GRCh38
NC_000001.10:g.115226844C>T , CM000663.1:g.115226844C>T	GRCh37
NC_000001.9:g.115028367C>T	NCBI36
NG_008012.1:g.16333G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.511G>A	ENSP00000358551.4:p.Val171Ile
ENST00000520113.7:c.523G>A MANE Select	ENSP00000430075.3:p.Val175Ile
ENST00000637080.1:c.526G>A	ENSP00000489753.1:p.Val176Ile
ENST00000639077.1:n.188G>A
ENST00000369538.3:c.610G>A	ENSP00000358551.3:p.Val204Ile
ENST00000485564.3:n.397G>A
ENST00000520113.6:c.622G>A	ENSP00000430075.2:p.Val208Ile
NM_000036.2:c.622G>A	NP_000027.2:p.Val208Ile
NM_001172626.1:c.610G>A	NP_001166097.1:p.Val204Ile
NM_000036.3:c.523G>A MANE Select	NP_000027.3:p.Val175Ile
NM_001172626.2:c.511G>A	NP_001166097.2:p.Val171Ile