Canonical Allele Identifier: CA341749087

Gene: AMPD1

Linked Data

• MyVariant Identifiers: chr1:g.115220596G>C (hg19) ; chr1:g.114677975G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.114677975G>C , CM000663.2:g.114677975G>C	GRCh38
NC_000001.10:g.115220596G>C , CM000663.1:g.115220596G>C	GRCh37
NC_000001.9:g.115022119G>C	NCBI36
NG_008012.1:g.22581C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000369538.4:c.1147C>G	ENSP00000358551.4:p.Leu383Val
ENST00000520113.7:c.1159C>G MANE Select	ENSP00000430075.3:p.Leu387Val
ENST00000637080.1:c.942C>G	ENSP00000489753.1:n.942C>G
ENST00000639077.1:n.824C>G
ENST00000369538.3:c.1246C>G	ENSP00000358551.3:p.Leu416Val
ENST00000520113.6:c.1258C>G	ENSP00000430075.2:p.Leu420Val
NM_000036.2:c.1258C>G	NP_000027.2:p.Leu420Val
NM_001172626.1:c.1246C>G	NP_001166097.1:p.Leu416Val
NM_000036.3:c.1159C>G MANE Select	NP_000027.3:p.Leu387Val
NM_001172626.2:c.1147C>G	NP_001166097.2:p.Leu383Val