Canonical Allele Identifier: CA405224775

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33892763C>T (hg19) ; chr19:g.33401857C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33401857C>T , CM000681.2:g.33401857C>T	GRCh38
NC_000019.9:g.33892763C>T , CM000681.1:g.33892763C>T	GRCh37
NC_000019.8:g.38584603C>T	NCBI36
NG_013358.1:g.125037G>A
NG_013358.2:g.125037G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.831G>A	ENSP00000468516.4:p.Met277Ile
ENST00000651901.2:c.831G>A	ENSP00000498922.2:p.Met277Ile
ENST00000698359.1:c.786G>A	ENSP00000513682.1:p.Met262Ile
ENST00000698360.1:c.882G>A	ENSP00000513683.1:p.Met294Ile
ENST00000698361.1:c.831G>A	ENSP00000513684.1:p.Met277Ile
ENST00000698362.1:c.831G>A	ENSP00000513685.1:p.Met277Ile
ENST00000698363.1:n.894G>A
ENST00000698364.1:n.894G>A
ENST00000698365.1:n.894G>A
ENST00000698426.1:c.510G>A	ENSP00000513713.1:p.Met170Ile
ENST00000698427.1:c.873G>A	ENSP00000513714.1:p.Met291Ile
ENST00000698428.1:c.510G>A	ENSP00000513715.1:p.Met170Ile
ENST00000698429.1:n.714G>A
ENST00000698430.1:c.1081G>A
ENST00000698431.1:c.568G>A	ENSP00000513717.1:n.568G>A
ENST00000698432.1:c.640G>A
ENST00000698433.1:n.293G>A
ENST00000698434.1:n.318G>A
ENST00000698435.1:c.519G>A	ENSP00000513719.1:p.Met173Ile
ENST00000244137.12:c.831G>A MANE Select	ENSP00000244137.5:p.Met277Ile
ENST00000588328.6:c.820G>A
ENST00000590731.6:n.506G>A
ENST00000651901.1:c.827G>A
ENST00000244137.11:c.831G>A	ENSP00000244137.5:p.Met277Ile
ENST00000397032.8:c.708G>A	ENSP00000380226.3:p.Met236Ile
ENST00000436370.7:c.639G>A	ENSP00000391890.2:p.Met213Ile
ENST00000588328.5:c.322G>A
ENST00000588719.5:n.466G>A
ENST00000590731.5:n.506G>A
ENST00000593163.5:n.996G>A
ENST00000609145.5:c.264G>A	ENSP00000476514.1:p.Met88Ile
NM_000285.3:c.831G>A	NP_000276.2:p.Met277Ile
NM_001166056.1:c.708G>A	NP_001159528.1:p.Met236Ile
NM_001166057.1:c.639G>A	NP_001159529.1:p.Met213Ile
NM_000285.4:c.831G>A MANE Select	NP_000276.2:p.Met277Ile
NM_001166056.2:c.708G>A	NP_001159528.1:p.Met236Ile
NM_001166057.2:c.639G>A	NP_001159529.1:p.Met213Ile