Canonical Allele Identifier: CA10648519

Gene: PEPD

Linked Data

• ClinVar Variation Id: 328798
• ClinVar RCV Id: RCV000380467
• dbSNP Id: rs886054335
• gnomAD v2: 19-33878993-G-A
• gnomAD v4: 19-33388087-G-A
• MyVariant Identifiers: chr19:g.33878993G>A (hg19) ; chr19:g.33388087G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33388087G>A , CM000681.2:g.33388087G>A	GRCh38
NC_000019.9:g.33878993G>A , CM000681.1:g.33878993G>A	GRCh37
NC_000019.8:g.38570833G>A	NCBI36
NG_013358.1:g.138807C>T
NG_013358.2:g.138807C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.1219-6C>T	ENSP00000468516.4:n.1219-6C>T
ENST00000651901.2:c.1153-6C>T	ENSP00000498922.2:n.1153-6C>T
ENST00000698359.1:c.1108-6C>T	ENSP00000513682.1:n.1108-6C>T
ENST00000698360.1:c.1204-6C>T	ENSP00000513683.1:n.1204-6C>T
ENST00000698361.1:c.1269-6C>T	ENSP00000513684.1:n.1269-6C>T
ENST00000698362.1:c.968-6C>T	ENSP00000513685.1:n.968-6C>T
ENST00000698426.1:c.832-6C>T	ENSP00000513713.1:n.832-6C>T
ENST00000698427.1:c.1195-6C>T	ENSP00000513714.1:n.1195-6C>T
ENST00000698428.1:c.832-6C>T	ENSP00000513715.1:n.832-6C>T
ENST00000698429.1:n.1036-6C>T
ENST00000698430.1:c.1403-6C>T
ENST00000698431.1:c.890-6C>T	ENSP00000513717.1:n.890-6C>T
ENST00000698432.1:c.962-6C>T
ENST00000698433.1:n.615-6C>T
ENST00000244137.12:c.1153-6C>T MANE Select	ENSP00000244137.5:n.1153-6C>T
ENST00000588328.6:c.1208-6C>T
ENST00000590731.6:n.828-6C>T
ENST00000651901.1:c.1149-6C>T
ENST00000244137.11:c.1153-6C>T	ENSP00000244137.5:n.1153-6C>T
ENST00000397032.8:c.1030-6C>T	ENSP00000380226.3:n.1030-6C>T
ENST00000436370.7:c.961-6C>T	ENSP00000391890.2:n.961-6C>T
ENST00000591968.1:n.225-6C>T
ENST00000593085.1:n.1034C>T
NM_000285.3:c.1153-6C>T	NP_000276.2:n.1153-6C>T
NM_001166056.1:c.1030-6C>T	NP_001159528.1:n.1030-6C>T
NM_001166057.1:c.961-6C>T	NP_001159529.1:n.961-6C>T
NM_000285.4:c.1153-6C>T MANE Select	NP_000276.2:n.1153-6C>T
NM_001166056.2:c.1030-6C>T	NP_001159528.1:n.1030-6C>T
NM_001166057.2:c.961-6C>T	NP_001159529.1:n.961-6C>T