Canonical Allele Identifier: CA405224425

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33892703C>G (hg19) ; chr19:g.33401797C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33401797C>G , CM000681.2:g.33401797C>G	GRCh38
NC_000019.9:g.33892703C>G , CM000681.1:g.33892703C>G	GRCh37
NC_000019.8:g.38584543C>G	NCBI36
NG_013358.1:g.125097G>C
NG_013358.2:g.125097G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.891G>C	ENSP00000468516.4:p.Lys297Asn
ENST00000651901.2:c.891G>C	ENSP00000498922.2:p.Lys297Asn
ENST00000698359.1:c.846G>C	ENSP00000513682.1:p.Lys282Asn
ENST00000698360.1:c.942G>C	ENSP00000513683.1:p.Lys314Asn
ENST00000698361.1:c.891G>C	ENSP00000513684.1:p.Lys297Asn
ENST00000698362.1:c.891G>C	ENSP00000513685.1:p.Lys297Asn
ENST00000698363.1:n.954G>C
ENST00000698364.1:n.954G>C
ENST00000698365.1:n.954G>C
ENST00000698426.1:c.570G>C	ENSP00000513713.1:p.Lys190Asn
ENST00000698427.1:c.933G>C	ENSP00000513714.1:p.Lys311Asn
ENST00000698428.1:c.570G>C	ENSP00000513715.1:p.Lys190Asn
ENST00000698429.1:n.774G>C
ENST00000698430.1:c.1141G>C
ENST00000698431.1:c.628G>C	ENSP00000513717.1:n.628G>C
ENST00000698432.1:c.700G>C
ENST00000698433.1:n.353G>C
ENST00000698434.1:n.378G>C
ENST00000698435.1:c.579G>C	ENSP00000513719.1:p.Lys193Asn
ENST00000244137.12:c.891G>C MANE Select	ENSP00000244137.5:p.Lys297Asn
ENST00000588328.6:c.880G>C
ENST00000590731.6:n.566G>C
ENST00000651901.1:c.887G>C
ENST00000244137.11:c.891G>C	ENSP00000244137.5:p.Lys297Asn
ENST00000397032.8:c.768G>C	ENSP00000380226.3:p.Lys256Asn
ENST00000436370.7:c.699G>C	ENSP00000391890.2:p.Lys233Asn
ENST00000588328.5:c.382G>C
NM_000285.3:c.891G>C	NP_000276.2:p.Lys297Asn
NM_001166056.1:c.768G>C	NP_001159528.1:p.Lys256Asn
NM_001166057.1:c.699G>C	NP_001159529.1:p.Lys233Asn
NM_000285.4:c.891G>C MANE Select	NP_000276.2:p.Lys297Asn
NM_001166056.2:c.768G>C	NP_001159528.1:p.Lys256Asn
NM_001166057.2:c.699G>C	NP_001159529.1:p.Lys233Asn