Canonical Allele Identifier: CA405230753

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33954927T>C (hg19) ; chr19:g.33464021T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33464021T>C , CM000681.2:g.33464021T>C	GRCh38
NC_000019.9:g.33954927T>C , CM000681.1:g.33954927T>C	GRCh37
NC_000019.8:g.38646767T>C	NCBI36
NG_013358.1:g.62873A>G
NG_013358.2:g.62873A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.590A>G	ENSP00000468516.4:p.Tyr197Cys
ENST00000651646.2:c.590A>G	ENSP00000498950.2:p.Tyr197Cys
ENST00000651901.2:c.590A>G	ENSP00000498922.2:p.Tyr197Cys
ENST00000698359.1:c.545A>G	ENSP00000513682.1:p.Tyr182Cys
ENST00000698360.1:c.590A>G	ENSP00000513683.1:p.Tyr197Cys
ENST00000698361.1:c.590A>G	ENSP00000513684.1:p.Tyr197Cys
ENST00000698362.1:c.590A>G	ENSP00000513685.1:p.Tyr197Cys
ENST00000698363.1:n.653A>G
ENST00000698364.1:n.653A>G
ENST00000698365.1:n.653A>G
ENST00000698426.1:c.269A>G	ENSP00000513713.1:p.Tyr90Cys
ENST00000698427.1:c.632A>G	ENSP00000513714.1:p.Tyr211Cys
ENST00000698428.1:c.269A>G	ENSP00000513715.1:p.Tyr90Cys
ENST00000698430.1:c.840A>G
ENST00000698431.1:c.327A>G	ENSP00000513717.1:n.327A>G
ENST00000698432.1:c.399A>G
ENST00000698435.1:c.278A>G	ENSP00000513719.1:p.Tyr93Cys
ENST00000698436.1:c.*202A>G	ENSP00000513720.1:n.*202A>G
ENST00000698437.1:n.573A>G
ENST00000698438.1:n.572A>G
ENST00000698439.1:c.447A>G	ENSP00000513721.1:n.447A>G
ENST00000244137.12:c.590A>G MANE Select	ENSP00000244137.5:p.Tyr197Cys
ENST00000588328.6:c.579A>G
ENST00000590731.6:n.265A>G
ENST00000651646.1:c.588A>G
ENST00000651901.1:c.586A>G
ENST00000244137.11:c.590A>G	ENSP00000244137.5:p.Tyr197Cys
ENST00000397032.8:c.548+14025A>G	ENSP00000380226.3:n.548+14025A>G
ENST00000436370.7:c.398A>G	ENSP00000391890.2:p.Tyr133Cys
ENST00000588328.5:c.81A>G
ENST00000588719.5:n.225A>G
ENST00000590408.1:c.308A>G
ENST00000590731.5:n.265A>G
ENST00000590755.6:c.417A>G	ENSP00000476667.1:n.417A>G
ENST00000593163.5:n.755A>G
ENST00000609145.5:c.23A>G	ENSP00000476514.1:p.Tyr8Cys
NM_000285.3:c.590A>G	NP_000276.2:p.Tyr197Cys
NM_001166056.1:c.548+14025A>G	NP_001159528.1:n.548+14025A>G
NM_001166057.1:c.398A>G	NP_001159529.1:p.Tyr133Cys
NM_000285.4:c.590A>G MANE Select	NP_000276.2:p.Tyr197Cys
NM_001166056.2:c.548+14025A>G	NP_001159528.1:n.548+14025A>G
NM_001166057.2:c.398A>G	NP_001159529.1:p.Tyr133Cys