Canonical Allele Identifier: CA506687820

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33892661C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33401755C>A , CM000681.2:g.33401755C>A	GRCh38
NC_000019.9:g.33892661C>A , CM000681.1:g.33892661C>A	GRCh37
NC_000019.8:g.38584501C>A	NCBI36
NG_013358.1:g.125139G>T
NG_013358.2:g.125139G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.933G>T	ENSP00000468516.4:p.Arg311=
ENST00000651901.2:c.933G>T	ENSP00000498922.2:p.Arg311=
ENST00000698359.1:c.888G>T	ENSP00000513682.1:p.Arg296=
ENST00000698360.1:c.984G>T	ENSP00000513683.1:p.Arg328=
ENST00000698361.1:c.933G>T	ENSP00000513684.1:p.Arg311=
ENST00000698362.1:c.933G>T	ENSP00000513685.1:p.Arg311=
ENST00000698363.1:n.996G>T
ENST00000698364.1:n.996G>T
ENST00000698365.1:n.996G>T
ENST00000698426.1:c.612G>T	ENSP00000513713.1:p.Arg204=
ENST00000698427.1:c.975G>T	ENSP00000513714.1:p.Arg325=
ENST00000698428.1:c.612G>T	ENSP00000513715.1:p.Arg204=
ENST00000698429.1:n.816G>T
ENST00000698430.1:c.1183G>T
ENST00000698431.1:c.670G>T	ENSP00000513717.1:n.670G>T
ENST00000698432.1:c.742G>T
ENST00000698433.1:n.395G>T
ENST00000698434.1:n.420G>T
ENST00000244137.12:c.933G>T MANE Select	ENSP00000244137.5:p.Arg311=
ENST00000588328.6:c.922G>T
ENST00000590731.6:n.608G>T
ENST00000651901.1:c.929G>T
ENST00000244137.11:c.933G>T	ENSP00000244137.5:p.Arg311=
ENST00000397032.8:c.810G>T	ENSP00000380226.3:p.Arg270=
ENST00000436370.7:c.741G>T	ENSP00000391890.2:p.Arg247=
ENST00000588328.5:c.424G>T
NM_000285.3:c.933G>T	NP_000276.2:p.Arg311=
NM_001166056.1:c.810G>T	NP_001159528.1:p.Arg270=
NM_001166057.1:c.741G>T	NP_001159529.1:p.Arg247=
NM_000285.4:c.933G>T MANE Select	NP_000276.2:p.Arg311=
NM_001166056.2:c.810G>T	NP_001159528.1:p.Arg270=
NM_001166057.2:c.741G>T	NP_001159529.1:p.Arg247=