Canonical Allele Identifier: CA405224615

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33892731A>C (hg19) ; chr19:g.33401825A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33401825A>C , CM000681.2:g.33401825A>C	GRCh38
NC_000019.9:g.33892731A>C , CM000681.1:g.33892731A>C	GRCh37
NC_000019.8:g.38584571A>C	NCBI36
NG_013358.1:g.125069T>G
NG_013358.2:g.125069T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.863T>G	ENSP00000468516.4:p.Ile288Ser
ENST00000651901.2:c.863T>G	ENSP00000498922.2:p.Ile288Ser
ENST00000698359.1:c.818T>G	ENSP00000513682.1:p.Ile273Ser
ENST00000698360.1:c.914T>G	ENSP00000513683.1:p.Ile305Ser
ENST00000698361.1:c.863T>G	ENSP00000513684.1:p.Ile288Ser
ENST00000698362.1:c.863T>G	ENSP00000513685.1:p.Ile288Ser
ENST00000698363.1:n.926T>G
ENST00000698364.1:n.926T>G
ENST00000698365.1:n.926T>G
ENST00000698426.1:c.542T>G	ENSP00000513713.1:p.Ile181Ser
ENST00000698427.1:c.905T>G	ENSP00000513714.1:p.Ile302Ser
ENST00000698428.1:c.542T>G	ENSP00000513715.1:p.Ile181Ser
ENST00000698429.1:n.746T>G
ENST00000698430.1:c.1113T>G
ENST00000698431.1:c.600T>G	ENSP00000513717.1:n.600T>G
ENST00000698432.1:c.672T>G
ENST00000698433.1:n.325T>G
ENST00000698434.1:n.350T>G
ENST00000698435.1:c.551T>G	ENSP00000513719.1:p.Ile184Ser
ENST00000244137.12:c.863T>G MANE Select	ENSP00000244137.5:p.Ile288Ser
ENST00000588328.6:c.852T>G
ENST00000590731.6:n.538T>G
ENST00000651901.1:c.859T>G
ENST00000244137.11:c.863T>G	ENSP00000244137.5:p.Ile288Ser
ENST00000397032.8:c.740T>G	ENSP00000380226.3:p.Ile247Ser
ENST00000436370.7:c.671T>G	ENSP00000391890.2:p.Ile224Ser
ENST00000588328.5:c.354T>G
ENST00000590731.5:n.538T>G
ENST00000593163.5:n.1028T>G
ENST00000609145.5:c.296T>G	ENSP00000476514.1:p.Ile99Ser
NM_000285.3:c.863T>G	NP_000276.2:p.Ile288Ser
NM_001166056.1:c.740T>G	NP_001159528.1:p.Ile247Ser
NM_001166057.1:c.671T>G	NP_001159529.1:p.Ile224Ser
NM_000285.4:c.863T>G MANE Select	NP_000276.2:p.Ile288Ser
NM_001166056.2:c.740T>G	NP_001159528.1:p.Ile247Ser
NM_001166057.2:c.671T>G	NP_001159529.1:p.Ile224Ser