Canonical Allele Identifier: CA405219758

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878380A>G (hg19) ; chr19:g.33387474A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387474A>G , CM000681.2:g.33387474A>G	GRCh38
NC_000019.9:g.33878380A>G , CM000681.1:g.33878380A>G	GRCh37
NC_000019.8:g.38570220A>G	NCBI36
NG_013358.1:g.139420T>C
NG_013358.2:g.139420T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1418T>C	ENSP00000468516.4:p.Ile473Thr
ENST00000651901.2:c.1442T>C	ENSP00000498922.2:p.Ile481Thr
ENST00000698359.1:c.1307T>C	ENSP00000513682.1:p.Ile436Thr
ENST00000698360.1:c.1403T>C	ENSP00000513683.1:p.Ile468Thr
ENST00000698361.1:c.1468T>C	ENSP00000513684.1:p.Ser490Pro
ENST00000698362.1:c.*489T>C	ENSP00000513685.1:n.*489T>C
ENST00000698426.1:c.1031T>C	ENSP00000513713.1:p.Ile344Thr
ENST00000698427.1:c.1394T>C	ENSP00000513714.1:p.Ile465Thr
ENST00000698428.1:c.1031T>C	ENSP00000513715.1:p.Ile344Thr
ENST00000698429.1:n.1235T>C
ENST00000698430.1:c.1602T>C
ENST00000698431.1:c.1089T>C	ENSP00000513717.1:n.1089T>C
ENST00000698432.1:c.1161T>C
ENST00000698433.1:n.814T>C
ENST00000244137.12:c.1352T>C MANE Select	ENSP00000244137.5:p.Ile451Thr
ENST00000588328.6:c.1407T>C
ENST00000651901.1:c.1438T>C
ENST00000244137.11:c.1352T>C	ENSP00000244137.5:p.Ile451Thr
ENST00000397032.8:c.1229T>C	ENSP00000380226.3:p.Ile410Thr
ENST00000436370.7:c.1160T>C	ENSP00000391890.2:p.Ile387Thr
ENST00000589598.5:n.77T>C
ENST00000591968.1:n.424T>C
ENST00000593085.1:n.1239T>C
NM_000285.3:c.1352T>C	NP_000276.2:p.Ile451Thr
NM_001166056.1:c.1229T>C	NP_001159528.1:p.Ile410Thr
NM_001166057.1:c.1160T>C	NP_001159529.1:p.Ile387Thr
NM_000285.4:c.1352T>C MANE Select	NP_000276.2:p.Ile451Thr
NM_001166056.2:c.1229T>C	NP_001159528.1:p.Ile410Thr
NM_001166057.2:c.1160T>C	NP_001159529.1:p.Ile387Thr