Canonical Allele Identifier: CA405219387

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33878278G>C (hg19) ; chr19:g.33387372G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33387372G>C , CM000681.2:g.33387372G>C	GRCh38
NC_000019.9:g.33878278G>C , CM000681.1:g.33878278G>C	GRCh37
NC_000019.8:g.38570118G>C	NCBI36
NG_013358.1:g.139522C>G
NG_013358.2:g.139522C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1520C>G	ENSP00000468516.4:p.Ala507Gly
ENST00000651901.2:c.1544C>G	ENSP00000498922.2:p.Ala515Gly
ENST00000698359.1:c.1409C>G	ENSP00000513682.1:p.Ala470Gly
ENST00000698360.1:c.1505C>G	ENSP00000513683.1:p.Ala502Gly
ENST00000698361.1:c.*82C>G	ENSP00000513684.1:n.*82C>G
ENST00000698362.1:c.*591C>G	ENSP00000513685.1:n.*591C>G
ENST00000698426.1:c.1133C>G	ENSP00000513713.1:p.Ala378Gly
ENST00000698427.1:c.1496C>G	ENSP00000513714.1:p.Ala499Gly
ENST00000698428.1:c.1133C>G	ENSP00000513715.1:p.Ala378Gly
ENST00000698429.1:n.1337C>G
ENST00000698430.1:c.1704C>G
ENST00000698431.1:c.1191C>G	ENSP00000513717.1:n.1191C>G
ENST00000698432.1:c.1263C>G
ENST00000698433.1:n.916C>G
ENST00000244137.12:c.1454C>G MANE Select	ENSP00000244137.5:p.Ala485Gly
ENST00000588328.6:c.1509C>G
ENST00000651901.1:c.1540C>G
ENST00000244137.11:c.1454C>G	ENSP00000244137.5:p.Ala485Gly
ENST00000397032.8:c.1331C>G	ENSP00000380226.3:p.Ala444Gly
ENST00000436370.7:c.1262C>G	ENSP00000391890.2:p.Ala421Gly
ENST00000589598.5:n.179C>G
ENST00000591968.1:n.526C>G
ENST00000593085.1:n.1341C>G
NM_000285.3:c.1454C>G	NP_000276.2:p.Ala485Gly
NM_001166056.1:c.1331C>G	NP_001159528.1:p.Ala444Gly
NM_001166057.1:c.1262C>G	NP_001159529.1:p.Ala421Gly
NM_000285.4:c.1454C>G MANE Select	NP_000276.2:p.Ala485Gly
NM_001166056.2:c.1331C>G	NP_001159528.1:p.Ala444Gly
NM_001166057.2:c.1262C>G	NP_001159529.1:p.Ala421Gly