Canonical Allele Identifier: CA1020431

Gene: AMPD1

Linked Data

• dbSNP Id: rs750531736
• ExAC: 1:115226935 T / C
• gnomAD v2: 1-115226935-T-C
• gnomAD v4: 1-114684314-T-C
• MyVariant Identifiers: chr1:g.115226935T>C (hg19) ; chr1:g.114684314T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114684314T>C , CM000663.2:g.114684314T>C	GRCh38
NC_000001.10:g.115226935T>C , CM000663.1:g.115226935T>C	GRCh37
NC_000001.9:g.115028458T>C	NCBI36
NG_008012.1:g.16242A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.420A>G	ENSP00000358551.4:p.Leu140=
ENST00000520113.7:c.432A>G MANE Select	ENSP00000430075.3:p.Leu144=
ENST00000637080.1:c.435A>G	ENSP00000489753.1:p.Leu145=
ENST00000639077.1:n.97A>G
ENST00000369538.3:c.519A>G	ENSP00000358551.3:p.Leu173=
ENST00000485564.3:n.306A>G
ENST00000520113.6:c.531A>G	ENSP00000430075.2:p.Leu177=
NM_000036.2:c.531A>G	NP_000027.2:p.Leu177=
NM_001172626.1:c.519A>G	NP_001166097.1:p.Leu173=
NM_000036.3:c.432A>G MANE Select	NP_000027.3:p.Leu144=
NM_001172626.2:c.420A>G	NP_001166097.2:p.Leu140=