Canonical Allele Identifier: CA506687861

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33892670T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33401764T>G , CM000681.2:g.33401764T>G	GRCh38
NC_000019.9:g.33892670T>G , CM000681.1:g.33892670T>G	GRCh37
NC_000019.8:g.38584510T>G	NCBI36
NG_013358.1:g.125130A>C
NG_013358.2:g.125130A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.924A>C	ENSP00000468516.4:p.Ala308=
ENST00000651901.2:c.924A>C	ENSP00000498922.2:p.Ala308=
ENST00000698359.1:c.879A>C	ENSP00000513682.1:p.Ala293=
ENST00000698360.1:c.975A>C	ENSP00000513683.1:p.Ala325=
ENST00000698361.1:c.924A>C	ENSP00000513684.1:p.Ala308=
ENST00000698362.1:c.924A>C	ENSP00000513685.1:p.Ala308=
ENST00000698363.1:n.987A>C
ENST00000698364.1:n.987A>C
ENST00000698365.1:n.987A>C
ENST00000698426.1:c.603A>C	ENSP00000513713.1:p.Ala201=
ENST00000698427.1:c.966A>C	ENSP00000513714.1:p.Ala322=
ENST00000698428.1:c.603A>C	ENSP00000513715.1:p.Ala201=
ENST00000698429.1:n.807A>C
ENST00000698430.1:c.1174A>C
ENST00000698431.1:c.661A>C	ENSP00000513717.1:n.661A>C
ENST00000698432.1:c.733A>C
ENST00000698433.1:n.386A>C
ENST00000698434.1:n.411A>C
ENST00000244137.12:c.924A>C MANE Select	ENSP00000244137.5:p.Ala308=
ENST00000588328.6:c.913A>C
ENST00000590731.6:n.599A>C
ENST00000651901.1:c.920A>C
ENST00000244137.11:c.924A>C	ENSP00000244137.5:p.Ala308=
ENST00000397032.8:c.801A>C	ENSP00000380226.3:p.Ala267=
ENST00000436370.7:c.732A>C	ENSP00000391890.2:p.Ala244=
ENST00000588328.5:c.415A>C
NM_000285.3:c.924A>C	NP_000276.2:p.Ala308=
NM_001166056.1:c.801A>C	NP_001159528.1:p.Ala267=
NM_001166057.1:c.732A>C	NP_001159529.1:p.Ala244=
NM_000285.4:c.924A>C MANE Select	NP_000276.2:p.Ala308=
NM_001166056.2:c.801A>C	NP_001159528.1:p.Ala267=
NM_001166057.2:c.732A>C	NP_001159529.1:p.Ala244=