Canonical Allele Identifier: CA405230748

Gene: PEPD

Linked Data

• gnomAD v4: 19-33464019-T-C
• MyVariant Identifiers: chr19:g.33954925T>C (hg19) ; chr19:g.33464019T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33464019T>C , CM000681.2:g.33464019T>C	GRCh38
NC_000019.9:g.33954925T>C , CM000681.1:g.33954925T>C	GRCh37
NC_000019.8:g.38646765T>C	NCBI36
NG_013358.1:g.62875A>G
NG_013358.2:g.62875A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.592A>G	ENSP00000468516.4:p.Thr198Ala
ENST00000651646.2:c.592A>G	ENSP00000498950.2:p.Thr198Ala
ENST00000651901.2:c.592A>G	ENSP00000498922.2:p.Thr198Ala
ENST00000698359.1:c.547A>G	ENSP00000513682.1:p.Thr183Ala
ENST00000698360.1:c.592A>G	ENSP00000513683.1:p.Thr198Ala
ENST00000698361.1:c.592A>G	ENSP00000513684.1:p.Thr198Ala
ENST00000698362.1:c.592A>G	ENSP00000513685.1:p.Thr198Ala
ENST00000698363.1:n.655A>G
ENST00000698364.1:n.655A>G
ENST00000698365.1:n.655A>G
ENST00000698426.1:c.271A>G	ENSP00000513713.1:p.Thr91Ala
ENST00000698427.1:c.634A>G	ENSP00000513714.1:p.Thr212Ala
ENST00000698428.1:c.271A>G	ENSP00000513715.1:p.Thr91Ala
ENST00000698430.1:c.842A>G
ENST00000698431.1:c.329A>G	ENSP00000513717.1:n.329A>G
ENST00000698432.1:c.401A>G
ENST00000698435.1:c.280A>G	ENSP00000513719.1:p.Thr94Ala
ENST00000698436.1:c.*204A>G	ENSP00000513720.1:n.*204A>G
ENST00000698437.1:n.575A>G
ENST00000698438.1:n.574A>G
ENST00000698439.1:c.449A>G	ENSP00000513721.1:n.449A>G
ENST00000244137.12:c.592A>G MANE Select	ENSP00000244137.5:p.Thr198Ala
ENST00000588328.6:c.581A>G
ENST00000590731.6:n.267A>G
ENST00000651646.1:c.590A>G
ENST00000651901.1:c.588A>G
ENST00000244137.11:c.592A>G	ENSP00000244137.5:p.Thr198Ala
ENST00000397032.8:c.548+14027A>G	ENSP00000380226.3:n.548+14027A>G
ENST00000436370.7:c.400A>G	ENSP00000391890.2:p.Thr134Ala
ENST00000588328.5:c.83A>G
ENST00000588719.5:n.227A>G
ENST00000590408.1:c.310A>G
ENST00000590731.5:n.267A>G
ENST00000590755.6:c.419A>G	ENSP00000476667.1:n.419A>G
ENST00000593163.5:n.757A>G
ENST00000609145.5:c.25A>G	ENSP00000476514.1:p.Thr9Ala
NM_000285.3:c.592A>G	NP_000276.2:p.Thr198Ala
NM_001166056.1:c.548+14027A>G	NP_001159528.1:n.548+14027A>G
NM_001166057.1:c.400A>G	NP_001159529.1:p.Thr134Ala
NM_000285.4:c.592A>G MANE Select	NP_000276.2:p.Thr198Ala
NM_001166056.2:c.548+14027A>G	NP_001159528.1:n.548+14027A>G
NM_001166057.2:c.400A>G	NP_001159529.1:p.Thr134Ala