Canonical Allele Identifier: CA341742539

Gene: AMPD1

Linked Data

• ClinVar Variation Id: 1721735
• ClinVar RCV Id: RCV002294983
• MyVariant Identifiers: chr1:g.115215808C>G (hg19) ; chr1:g.114673187C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114673187C>G , CM000663.2:g.114673187C>G	GRCh38
NC_000001.10:g.115215808C>G , CM000663.1:g.115215808C>G	GRCh37
NC_000001.9:g.115017331C>G	NCBI36
NG_008012.1:g.27369G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369538.4:c.2159G>C	ENSP00000358551.4:p.Arg720Pro
ENST00000520113.7:c.2171G>C MANE Select	ENSP00000430075.3:p.Arg724Pro
ENST00000637080.1:c.1954G>C	ENSP00000489753.1:n.1954G>C
ENST00000639077.1:n.1693G>C
ENST00000639274.1:n.801G>C
ENST00000369538.3:c.2258G>C	ENSP00000358551.3:p.Arg753Pro
ENST00000520113.6:c.2270G>C	ENSP00000430075.2:p.Arg757Pro
NM_000036.2:c.2270G>C	NP_000027.2:p.Arg757Pro
NM_001172626.1:c.2258G>C	NP_001166097.1:p.Arg753Pro
NM_000036.3:c.2171G>C MANE Select	NP_000027.3:p.Arg724Pro
NM_001172626.2:c.2159G>C	NP_001166097.2:p.Arg720Pro