Canonical Allele Identifier: CA405224768

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33892762C>G (hg19) ; chr19:g.33401856C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33401856C>G , CM000681.2:g.33401856C>G	GRCh38
NC_000019.9:g.33892762C>G , CM000681.1:g.33892762C>G	GRCh37
NC_000019.8:g.38584602C>G	NCBI36
NG_013358.1:g.125038G>C
NG_013358.2:g.125038G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.832G>C	ENSP00000468516.4:p.Gly278Arg
ENST00000651901.2:c.832G>C	ENSP00000498922.2:p.Gly278Arg
ENST00000698359.1:c.787G>C	ENSP00000513682.1:p.Gly263Arg
ENST00000698360.1:c.883G>C	ENSP00000513683.1:p.Gly295Arg
ENST00000698361.1:c.832G>C	ENSP00000513684.1:p.Gly278Arg
ENST00000698362.1:c.832G>C	ENSP00000513685.1:p.Gly278Arg
ENST00000698363.1:n.895G>C
ENST00000698364.1:n.895G>C
ENST00000698365.1:n.895G>C
ENST00000698426.1:c.511G>C	ENSP00000513713.1:p.Gly171Arg
ENST00000698427.1:c.874G>C	ENSP00000513714.1:p.Gly292Arg
ENST00000698428.1:c.511G>C	ENSP00000513715.1:p.Gly171Arg
ENST00000698429.1:n.715G>C
ENST00000698430.1:c.1082G>C
ENST00000698431.1:c.569G>C	ENSP00000513717.1:n.569G>C
ENST00000698432.1:c.641G>C
ENST00000698433.1:n.294G>C
ENST00000698434.1:n.319G>C
ENST00000698435.1:c.520G>C	ENSP00000513719.1:p.Gly174Arg
ENST00000244137.12:c.832G>C MANE Select	ENSP00000244137.5:p.Gly278Arg
ENST00000588328.6:c.821G>C
ENST00000590731.6:n.507G>C
ENST00000651901.1:c.828G>C
ENST00000244137.11:c.832G>C	ENSP00000244137.5:p.Gly278Arg
ENST00000397032.8:c.709G>C	ENSP00000380226.3:p.Gly237Arg
ENST00000436370.7:c.640G>C	ENSP00000391890.2:p.Gly214Arg
ENST00000588328.5:c.323G>C
ENST00000588719.5:n.467G>C
ENST00000590731.5:n.507G>C
ENST00000593163.5:n.997G>C
ENST00000609145.5:c.265G>C	ENSP00000476514.1:p.Gly89Arg
NM_000285.3:c.832G>C	NP_000276.2:p.Gly278Arg
NM_001166056.1:c.709G>C	NP_001159528.1:p.Gly237Arg
NM_001166057.1:c.640G>C	NP_001159529.1:p.Gly214Arg
NM_000285.4:c.832G>C MANE Select	NP_000276.2:p.Gly278Arg
NM_001166056.2:c.709G>C	NP_001159528.1:p.Gly237Arg
NM_001166057.2:c.640G>C	NP_001159529.1:p.Gly214Arg