Canonical Allele Identifier: CA632705472

Gene: PEPD

Linked Data

• dbSNP Id: rs1209174891
• gnomAD v2: 19-34012680-C-T
• gnomAD v4: 19-33521774-C-T
• MyVariant Identifiers: chr19:g.34012680C>T (hg19) ; chr19:g.33521774C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33521774C>T , CM000681.2:g.33521774C>T	GRCh38
NC_000019.9:g.34012680C>T , CM000681.1:g.34012680C>T	GRCh37
NC_000019.8:g.38704520C>T	NCBI36
NG_013358.1:g.5120G>A
NG_013358.2:g.5120G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.-14G>A	ENSP00000468516.4:n.-14G>A
ENST00000651901.2:c.-14G>A	ENSP00000498922.2:n.-14G>A
ENST00000698359.1:c.-14G>A	ENSP00000513682.1:n.-14G>A
ENST00000698360.1:c.-14G>A	ENSP00000513683.1:n.-14G>A
ENST00000698361.1:c.-14G>A	ENSP00000513684.1:n.-14G>A
ENST00000698362.1:c.-14G>A	ENSP00000513685.1:n.-14G>A
ENST00000698363.1:n.50G>A
ENST00000698364.1:n.50G>A
ENST00000698365.1:n.50G>A
ENST00000698426.1:c.-529G>A	ENSP00000513713.1:n.-529G>A
ENST00000698427.1:c.-79G>A	ENSP00000513714.1:n.-79G>A
ENST00000698428.1:c.-407G>A	ENSP00000513715.1:n.-407G>A
ENST00000698435.1:c.-14G>A	ENSP00000513719.1:n.-14G>A
ENST00000698436.1:c.-14G>A	ENSP00000513720.1:n.-14G>A
ENST00000244137.12:c.-14G>A MANE Select	ENSP00000244137.5:n.-14G>A
ENST00000244137.11:c.-14G>A	ENSP00000244137.5:n.-14G>A
ENST00000397032.8:c.-14G>A	ENSP00000380226.3:n.-14G>A
ENST00000436370.7:c.-14G>A	ENSP00000391890.2:n.-14G>A
NM_000285.3:c.-14G>A	NP_000276.2:n.-14G>A
NM_001166056.1:c.-14G>A	NP_001159528.1:n.-14G>A
NM_001166057.1:c.-14G>A	NP_001159529.1:n.-14G>A
NM_000285.4:c.-14G>A MANE Select	NP_000276.2:n.-14G>A
NM_001166056.2:c.-14G>A	NP_001159528.1:n.-14G>A
NM_001166057.2:c.-14G>A	NP_001159529.1:n.-14G>A