Canonical Allele Identifier: CA405230726

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33954916T>G (hg19) ; chr19:g.33464010T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33464010T>G , CM000681.2:g.33464010T>G	GRCh38
NC_000019.9:g.33954916T>G , CM000681.1:g.33954916T>G	GRCh37
NC_000019.8:g.38646756T>G	NCBI36
NG_013358.1:g.62884A>C
NG_013358.2:g.62884A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.601A>C	ENSP00000468516.4:p.Ile201Leu
ENST00000651646.2:c.601A>C	ENSP00000498950.2:p.Ile201Leu
ENST00000651901.2:c.601A>C	ENSP00000498922.2:p.Ile201Leu
ENST00000698359.1:c.556A>C	ENSP00000513682.1:p.Ile186Leu
ENST00000698360.1:c.601A>C	ENSP00000513683.1:p.Ile201Leu
ENST00000698361.1:c.601A>C	ENSP00000513684.1:p.Ile201Leu
ENST00000698362.1:c.601A>C	ENSP00000513685.1:p.Ile201Leu
ENST00000698363.1:n.664A>C
ENST00000698364.1:n.664A>C
ENST00000698365.1:n.664A>C
ENST00000698426.1:c.280A>C	ENSP00000513713.1:p.Ile94Leu
ENST00000698427.1:c.643A>C	ENSP00000513714.1:p.Ile215Leu
ENST00000698428.1:c.280A>C	ENSP00000513715.1:p.Ile94Leu
ENST00000698430.1:c.851A>C
ENST00000698431.1:c.338A>C	ENSP00000513717.1:n.338A>C
ENST00000698432.1:c.410A>C
ENST00000698435.1:c.289A>C	ENSP00000513719.1:p.Ile97Leu
ENST00000698436.1:c.*213A>C	ENSP00000513720.1:n.*213A>C
ENST00000698437.1:n.584A>C
ENST00000698438.1:n.583A>C
ENST00000698439.1:c.458A>C	ENSP00000513721.1:n.458A>C
ENST00000244137.12:c.601A>C MANE Select	ENSP00000244137.5:p.Ile201Leu
ENST00000588328.6:c.590A>C
ENST00000590731.6:n.276A>C
ENST00000651646.1:c.599A>C
ENST00000651901.1:c.597A>C
ENST00000244137.11:c.601A>C	ENSP00000244137.5:p.Ile201Leu
ENST00000397032.8:c.548+14036A>C	ENSP00000380226.3:n.548+14036A>C
ENST00000436370.7:c.409A>C	ENSP00000391890.2:p.Ile137Leu
ENST00000588328.5:c.92A>C
ENST00000588719.5:n.236A>C
ENST00000590408.1:c.319A>C
ENST00000590731.5:n.276A>C
ENST00000590755.6:c.428A>C	ENSP00000476667.1:n.428A>C
ENST00000593163.5:n.766A>C
ENST00000609145.5:c.34A>C	ENSP00000476514.1:p.Ile12Leu
NM_000285.3:c.601A>C	NP_000276.2:p.Ile201Leu
NM_001166056.1:c.548+14036A>C	NP_001159528.1:n.548+14036A>C
NM_001166057.1:c.409A>C	NP_001159529.1:p.Ile137Leu
NM_000285.4:c.601A>C MANE Select	NP_000276.2:p.Ile201Leu
NM_001166056.2:c.548+14036A>C	NP_001159528.1:n.548+14036A>C
NM_001166057.2:c.409A>C	NP_001159529.1:p.Ile137Leu