Canonical Allele Identifier: CA405219771

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878383C>G (hg19) ; chr19:g.33387477C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387477C>G , CM000681.2:g.33387477C>G	GRCh38
NC_000019.9:g.33878383C>G , CM000681.1:g.33878383C>G	GRCh37
NC_000019.8:g.38570223C>G	NCBI36
NG_013358.1:g.139417G>C
NG_013358.2:g.139417G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1415G>C	ENSP00000468516.4:p.Arg472Pro
ENST00000651901.2:c.1439G>C	ENSP00000498922.2:p.Arg480Pro
ENST00000698359.1:c.1304G>C	ENSP00000513682.1:p.Arg435Pro
ENST00000698360.1:c.1400G>C	ENSP00000513683.1:p.Arg467Pro
ENST00000698361.1:c.1465G>C	ENSP00000513684.1:p.Ala489Pro
ENST00000698362.1:c.*486G>C	ENSP00000513685.1:n.*486G>C
ENST00000698426.1:c.1028G>C	ENSP00000513713.1:p.Arg343Pro
ENST00000698427.1:c.1391G>C	ENSP00000513714.1:p.Arg464Pro
ENST00000698428.1:c.1028G>C	ENSP00000513715.1:p.Arg343Pro
ENST00000698429.1:n.1232G>C
ENST00000698430.1:c.1599G>C
ENST00000698431.1:c.1086G>C	ENSP00000513717.1:n.1086G>C
ENST00000698432.1:c.1158G>C
ENST00000698433.1:n.811G>C
ENST00000244137.12:c.1349G>C MANE Select	ENSP00000244137.5:p.Arg450Pro
ENST00000588328.6:c.1404G>C
ENST00000651901.1:c.1435G>C
ENST00000244137.11:c.1349G>C	ENSP00000244137.5:p.Arg450Pro
ENST00000397032.8:c.1226G>C	ENSP00000380226.3:p.Arg409Pro
ENST00000436370.7:c.1157G>C	ENSP00000391890.2:p.Arg386Pro
ENST00000589598.5:n.74G>C
ENST00000591968.1:n.421G>C
ENST00000593085.1:n.1236G>C
NM_000285.3:c.1349G>C	NP_000276.2:p.Arg450Pro
NM_001166056.1:c.1226G>C	NP_001159528.1:p.Arg409Pro
NM_001166057.1:c.1157G>C	NP_001159529.1:p.Arg386Pro
NM_000285.4:c.1349G>C MANE Select	NP_000276.2:p.Arg450Pro
NM_001166056.2:c.1226G>C	NP_001159528.1:p.Arg409Pro
NM_001166057.2:c.1157G>C	NP_001159529.1:p.Arg386Pro