Canonical Allele Identifier: CA405219681

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878343C>A (hg19) ; chr19:g.33387437C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387437C>A , CM000681.2:g.33387437C>A	GRCh38
NC_000019.9:g.33878343C>A , CM000681.1:g.33878343C>A	GRCh37
NC_000019.8:g.38570183C>A	NCBI36
NG_013358.1:g.139457G>T
NG_013358.2:g.139457G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1455G>T	ENSP00000468516.4:p.Glu485Asp
ENST00000651901.2:c.1479G>T	ENSP00000498922.2:p.Glu493Asp
ENST00000698359.1:c.1344G>T	ENSP00000513682.1:p.Glu448Asp
ENST00000698360.1:c.1440G>T	ENSP00000513683.1:p.Glu480Asp
ENST00000698361.1:c.*17G>T	ENSP00000513684.1:n.*17G>T
ENST00000698362.1:c.*526G>T	ENSP00000513685.1:n.*526G>T
ENST00000698426.1:c.1068G>T	ENSP00000513713.1:p.Glu356Asp
ENST00000698427.1:c.1431G>T	ENSP00000513714.1:p.Glu477Asp
ENST00000698428.1:c.1068G>T	ENSP00000513715.1:p.Glu356Asp
ENST00000698429.1:n.1272G>T
ENST00000698430.1:c.1639G>T
ENST00000698431.1:c.1126G>T	ENSP00000513717.1:n.1126G>T
ENST00000698432.1:c.1198G>T
ENST00000698433.1:n.851G>T
ENST00000244137.12:c.1389G>T MANE Select	ENSP00000244137.5:p.Glu463Asp
ENST00000588328.6:c.1444G>T
ENST00000651901.1:c.1475G>T
ENST00000244137.11:c.1389G>T	ENSP00000244137.5:p.Glu463Asp
ENST00000397032.8:c.1266G>T	ENSP00000380226.3:p.Glu422Asp
ENST00000436370.7:c.1197G>T	ENSP00000391890.2:p.Glu399Asp
ENST00000589598.5:n.114G>T
ENST00000591968.1:n.461G>T
ENST00000593085.1:n.1276G>T
NM_000285.3:c.1389G>T	NP_000276.2:p.Glu463Asp
NM_001166056.1:c.1266G>T	NP_001159528.1:p.Glu422Asp
NM_001166057.1:c.1197G>T	NP_001159529.1:p.Glu399Asp
NM_000285.4:c.1389G>T MANE Select	NP_000276.2:p.Glu463Asp
NM_001166056.2:c.1266G>T	NP_001159528.1:p.Glu422Asp
NM_001166057.2:c.1197G>T	NP_001159529.1:p.Glu399Asp