Canonical Allele Identifier: CA405219396

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878279C>T (hg19) ; chr19:g.33387373C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387373C>T , CM000681.2:g.33387373C>T	GRCh38
NC_000019.9:g.33878279C>T , CM000681.1:g.33878279C>T	GRCh37
NC_000019.8:g.38570119C>T	NCBI36
NG_013358.1:g.139521G>A
NG_013358.2:g.139521G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1519G>A	ENSP00000468516.4:p.Ala507Thr
ENST00000651901.2:c.1543G>A	ENSP00000498922.2:p.Ala515Thr
ENST00000698359.1:c.1408G>A	ENSP00000513682.1:p.Ala470Thr
ENST00000698360.1:c.1504G>A	ENSP00000513683.1:p.Ala502Thr
ENST00000698361.1:c.*81G>A	ENSP00000513684.1:n.*81G>A
ENST00000698362.1:c.*590G>A	ENSP00000513685.1:n.*590G>A
ENST00000698426.1:c.1132G>A	ENSP00000513713.1:p.Ala378Thr
ENST00000698427.1:c.1495G>A	ENSP00000513714.1:p.Ala499Thr
ENST00000698428.1:c.1132G>A	ENSP00000513715.1:p.Ala378Thr
ENST00000698429.1:n.1336G>A
ENST00000698430.1:c.1703G>A
ENST00000698431.1:c.1190G>A	ENSP00000513717.1:n.1190G>A
ENST00000698432.1:c.1262G>A
ENST00000698433.1:n.915G>A
ENST00000244137.12:c.1453G>A MANE Select	ENSP00000244137.5:p.Ala485Thr
ENST00000588328.6:c.1508G>A
ENST00000651901.1:c.1539G>A
ENST00000244137.11:c.1453G>A	ENSP00000244137.5:p.Ala485Thr
ENST00000397032.8:c.1330G>A	ENSP00000380226.3:p.Ala444Thr
ENST00000436370.7:c.1261G>A	ENSP00000391890.2:p.Ala421Thr
ENST00000589598.5:n.178G>A
ENST00000591968.1:n.525G>A
ENST00000593085.1:n.1340G>A
NM_000285.3:c.1453G>A	NP_000276.2:p.Ala485Thr
NM_001166056.1:c.1330G>A	NP_001159528.1:p.Ala444Thr
NM_001166057.1:c.1261G>A	NP_001159529.1:p.Ala421Thr
NM_000285.4:c.1453G>A MANE Select	NP_000276.2:p.Ala485Thr
NM_001166056.2:c.1330G>A	NP_001159528.1:p.Ala444Thr
NM_001166057.2:c.1261G>A	NP_001159529.1:p.Ala421Thr