Canonical Allele Identifier: CA405224818

Gene: PEPD

Linked Data

• gnomAD v4: 19-33401867-A-G
• MyVariant Identifiers: chr19:g.33892773A>G (hg19) ; chr19:g.33401867A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33401867A>G , CM000681.2:g.33401867A>G	GRCh38
NC_000019.9:g.33892773A>G , CM000681.1:g.33892773A>G	GRCh37
NC_000019.8:g.38584613A>G	NCBI36
NG_013358.1:g.125027T>C
NG_013358.2:g.125027T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.821T>C	ENSP00000468516.4:p.Leu274Pro
ENST00000651901.2:c.821T>C	ENSP00000498922.2:p.Leu274Pro
ENST00000698359.1:c.776T>C	ENSP00000513682.1:p.Leu259Pro
ENST00000698360.1:c.872T>C	ENSP00000513683.1:p.Leu291Pro
ENST00000698361.1:c.821T>C	ENSP00000513684.1:p.Leu274Pro
ENST00000698362.1:c.821T>C	ENSP00000513685.1:p.Leu274Pro
ENST00000698363.1:n.884T>C
ENST00000698364.1:n.884T>C
ENST00000698365.1:n.884T>C
ENST00000698426.1:c.500T>C	ENSP00000513713.1:p.Leu167Pro
ENST00000698427.1:c.863T>C	ENSP00000513714.1:p.Leu288Pro
ENST00000698428.1:c.500T>C	ENSP00000513715.1:p.Leu167Pro
ENST00000698429.1:n.704T>C
ENST00000698430.1:c.1071T>C
ENST00000698431.1:c.558T>C	ENSP00000513717.1:n.558T>C
ENST00000698432.1:c.630T>C
ENST00000698433.1:n.283T>C
ENST00000698434.1:n.308T>C
ENST00000698435.1:c.509T>C	ENSP00000513719.1:p.Leu170Pro
ENST00000244137.12:c.821T>C MANE Select	ENSP00000244137.5:p.Leu274Pro
ENST00000588328.6:c.810T>C
ENST00000590731.6:n.496T>C
ENST00000651901.1:c.817T>C
ENST00000244137.11:c.821T>C	ENSP00000244137.5:p.Leu274Pro
ENST00000397032.8:c.698T>C	ENSP00000380226.3:p.Leu233Pro
ENST00000436370.7:c.629T>C	ENSP00000391890.2:p.Leu210Pro
ENST00000588328.5:c.312T>C
ENST00000588719.5:n.456T>C
ENST00000590731.5:n.496T>C
ENST00000593163.5:n.986T>C
ENST00000609145.5:c.254T>C	ENSP00000476514.1:p.Leu85Pro
NM_000285.3:c.821T>C	NP_000276.2:p.Leu274Pro
NM_001166056.1:c.698T>C	NP_001159528.1:p.Leu233Pro
NM_001166057.1:c.629T>C	NP_001159529.1:p.Leu210Pro
NM_000285.4:c.821T>C MANE Select	NP_000276.2:p.Leu274Pro
NM_001166056.2:c.698T>C	NP_001159528.1:p.Leu233Pro
NM_001166057.2:c.629T>C	NP_001159529.1:p.Leu210Pro