Canonical Allele Identifier: CA341752578

Gene: AMPD1

Linked Data

• dbSNP Id: rs1658245832
• gnomAD v4: 1-114684274-A-G
• MyVariant Identifiers: chr1:g.115226895A>G (hg19) ; chr1:g.114684274A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684274A>G , CM000663.2:g.114684274A>G	GRCh38
NC_000001.10:g.115226895A>G , CM000663.1:g.115226895A>G	GRCh37
NC_000001.9:g.115028418A>G	NCBI36
NG_008012.1:g.16282T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.460T>C	ENSP00000358551.4:p.Phe154Leu
ENST00000520113.7:c.472T>C MANE Select	ENSP00000430075.3:p.Phe158Leu
ENST00000637080.1:c.475T>C	ENSP00000489753.1:p.Phe159Leu
ENST00000639077.1:n.137T>C
ENST00000369538.3:c.559T>C	ENSP00000358551.3:p.Phe187Leu
ENST00000485564.3:n.346T>C
ENST00000520113.6:c.571T>C	ENSP00000430075.2:p.Phe191Leu
NM_000036.2:c.571T>C	NP_000027.2:p.Phe191Leu
NM_001172626.1:c.559T>C	NP_001166097.1:p.Phe187Leu
NM_000036.3:c.472T>C MANE Select	NP_000027.3:p.Phe158Leu
NM_001172626.2:c.460T>C	NP_001166097.2:p.Phe154Leu