Canonical Allele Identifier: CA405219746

Gene: PEPD

Linked Data

• dbSNP Id: rs1387300646
• MyVariant Identifiers: chr19:g.33878375C>G (hg19) ; chr19:g.33387469C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387469C>G , CM000681.2:g.33387469C>G	GRCh38
NC_000019.9:g.33878375C>G , CM000681.1:g.33878375C>G	GRCh37
NC_000019.8:g.38570215C>G	NCBI36
NG_013358.1:g.139425G>C
NG_013358.2:g.139425G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1423G>C	ENSP00000468516.4:p.Glu475Gln
ENST00000651901.2:c.1447G>C	ENSP00000498922.2:p.Glu483Gln
ENST00000698359.1:c.1312G>C	ENSP00000513682.1:p.Glu438Gln
ENST00000698360.1:c.1408G>C	ENSP00000513683.1:p.Glu470Gln
ENST00000698361.1:c.1473G>C	ENSP00000513684.1:p.Arg491Ser
ENST00000698362.1:c.*494G>C	ENSP00000513685.1:n.*494G>C
ENST00000698426.1:c.1036G>C	ENSP00000513713.1:p.Glu346Gln
ENST00000698427.1:c.1399G>C	ENSP00000513714.1:p.Glu467Gln
ENST00000698428.1:c.1036G>C	ENSP00000513715.1:p.Glu346Gln
ENST00000698429.1:n.1240G>C
ENST00000698430.1:c.1607G>C
ENST00000698431.1:c.1094G>C	ENSP00000513717.1:n.1094G>C
ENST00000698432.1:c.1166G>C
ENST00000698433.1:n.819G>C
ENST00000244137.12:c.1357G>C MANE Select	ENSP00000244137.5:p.Glu453Gln
ENST00000588328.6:c.1412G>C
ENST00000651901.1:c.1443G>C
ENST00000244137.11:c.1357G>C	ENSP00000244137.5:p.Glu453Gln
ENST00000397032.8:c.1234G>C	ENSP00000380226.3:p.Glu412Gln
ENST00000436370.7:c.1165G>C	ENSP00000391890.2:p.Glu389Gln
ENST00000589598.5:n.82G>C
ENST00000591968.1:n.429G>C
ENST00000593085.1:n.1244G>C
NM_000285.3:c.1357G>C	NP_000276.2:p.Glu453Gln
NM_001166056.1:c.1234G>C	NP_001159528.1:p.Glu412Gln
NM_001166057.1:c.1165G>C	NP_001159529.1:p.Glu389Gln
NM_000285.4:c.1357G>C MANE Select	NP_000276.2:p.Glu453Gln
NM_001166056.2:c.1234G>C	NP_001159528.1:p.Glu412Gln
NM_001166057.2:c.1165G>C	NP_001159529.1:p.Glu389Gln