Canonical Allele Identifier: CA405224147

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33892662C>G (hg19) ; chr19:g.33401756C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33401756C>G , CM000681.2:g.33401756C>G	GRCh38
NC_000019.9:g.33892662C>G , CM000681.1:g.33892662C>G	GRCh37
NC_000019.8:g.38584502C>G	NCBI36
NG_013358.1:g.125138G>C
NG_013358.2:g.125138G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.932G>C	ENSP00000468516.4:p.Arg311Pro
ENST00000651901.2:c.932G>C	ENSP00000498922.2:p.Arg311Pro
ENST00000698359.1:c.887G>C	ENSP00000513682.1:p.Arg296Pro
ENST00000698360.1:c.983G>C	ENSP00000513683.1:p.Arg328Pro
ENST00000698361.1:c.932G>C	ENSP00000513684.1:p.Arg311Pro
ENST00000698362.1:c.932G>C	ENSP00000513685.1:p.Arg311Pro
ENST00000698363.1:n.995G>C
ENST00000698364.1:n.995G>C
ENST00000698365.1:n.995G>C
ENST00000698426.1:c.611G>C	ENSP00000513713.1:p.Arg204Pro
ENST00000698427.1:c.974G>C	ENSP00000513714.1:p.Arg325Pro
ENST00000698428.1:c.611G>C	ENSP00000513715.1:p.Arg204Pro
ENST00000698429.1:n.815G>C
ENST00000698430.1:c.1182G>C
ENST00000698431.1:c.669G>C	ENSP00000513717.1:n.669G>C
ENST00000698432.1:c.741G>C
ENST00000698433.1:n.394G>C
ENST00000698434.1:n.419G>C
ENST00000244137.12:c.932G>C MANE Select	ENSP00000244137.5:p.Arg311Pro
ENST00000588328.6:c.921G>C
ENST00000590731.6:n.607G>C
ENST00000651901.1:c.928G>C
ENST00000244137.11:c.932G>C	ENSP00000244137.5:p.Arg311Pro
ENST00000397032.8:c.809G>C	ENSP00000380226.3:p.Arg270Pro
ENST00000436370.7:c.740G>C	ENSP00000391890.2:p.Arg247Pro
ENST00000588328.5:c.423G>C
NM_000285.3:c.932G>C	NP_000276.2:p.Arg311Pro
NM_001166056.1:c.809G>C	NP_001159528.1:p.Arg270Pro
NM_001166057.1:c.740G>C	NP_001159529.1:p.Arg247Pro
NM_000285.4:c.932G>C MANE Select	NP_000276.2:p.Arg311Pro
NM_001166056.2:c.809G>C	NP_001159528.1:p.Arg270Pro
NM_001166057.2:c.740G>C	NP_001159529.1:p.Arg247Pro