Canonical Allele Identifier: CA405219614

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878317A>G (hg19) ; chr19:g.33387411A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387411A>G , CM000681.2:g.33387411A>G	GRCh38
NC_000019.9:g.33878317A>G , CM000681.1:g.33878317A>G	GRCh37
NC_000019.8:g.38570157A>G	NCBI36
NG_013358.1:g.139483T>C
NG_013358.2:g.139483T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1481T>C	ENSP00000468516.4:p.Val494Ala
ENST00000651901.2:c.1505T>C	ENSP00000498922.2:p.Val502Ala
ENST00000698359.1:c.1370T>C	ENSP00000513682.1:p.Val457Ala
ENST00000698360.1:c.1466T>C	ENSP00000513683.1:p.Val489Ala
ENST00000698361.1:c.*43T>C	ENSP00000513684.1:n.*43T>C
ENST00000698362.1:c.*552T>C	ENSP00000513685.1:n.*552T>C
ENST00000698426.1:c.1094T>C	ENSP00000513713.1:p.Val365Ala
ENST00000698427.1:c.1457T>C	ENSP00000513714.1:p.Val486Ala
ENST00000698428.1:c.1094T>C	ENSP00000513715.1:p.Val365Ala
ENST00000698429.1:n.1298T>C
ENST00000698430.1:c.1665T>C
ENST00000698431.1:c.1152T>C	ENSP00000513717.1:n.1152T>C
ENST00000698432.1:c.1224T>C
ENST00000698433.1:n.877T>C
ENST00000244137.12:c.1415T>C MANE Select	ENSP00000244137.5:p.Val472Ala
ENST00000588328.6:c.1470T>C
ENST00000651901.1:c.1501T>C
ENST00000244137.11:c.1415T>C	ENSP00000244137.5:p.Val472Ala
ENST00000397032.8:c.1292T>C	ENSP00000380226.3:p.Val431Ala
ENST00000436370.7:c.1223T>C	ENSP00000391890.2:p.Val408Ala
ENST00000589598.5:n.140T>C
ENST00000591968.1:n.487T>C
ENST00000593085.1:n.1302T>C
NM_000285.3:c.1415T>C	NP_000276.2:p.Val472Ala
NM_001166056.1:c.1292T>C	NP_001159528.1:p.Val431Ala
NM_001166057.1:c.1223T>C	NP_001159529.1:p.Val408Ala
NM_000285.4:c.1415T>C MANE Select	NP_000276.2:p.Val472Ala
NM_001166056.2:c.1292T>C	NP_001159528.1:p.Val431Ala
NM_001166057.2:c.1223T>C	NP_001159529.1:p.Val408Ala