Canonical Allele Identifier: CA405224778

Gene: PEPD

Linked Data

• dbSNP Id: rs1412187120
• gnomAD v2: 19-33892764-A-G
• gnomAD v4: 19-33401858-A-G
• MyVariant Identifiers: chr19:g.33892764A>G (hg19) ; chr19:g.33401858A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33401858A>G , CM000681.2:g.33401858A>G	GRCh38
NC_000019.9:g.33892764A>G , CM000681.1:g.33892764A>G	GRCh37
NC_000019.8:g.38584604A>G	NCBI36
NG_013358.1:g.125036T>C
NG_013358.2:g.125036T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.830T>C	ENSP00000468516.4:p.Met277Thr
ENST00000651901.2:c.830T>C	ENSP00000498922.2:p.Met277Thr
ENST00000698359.1:c.785T>C	ENSP00000513682.1:p.Met262Thr
ENST00000698360.1:c.881T>C	ENSP00000513683.1:p.Met294Thr
ENST00000698361.1:c.830T>C	ENSP00000513684.1:p.Met277Thr
ENST00000698362.1:c.830T>C	ENSP00000513685.1:p.Met277Thr
ENST00000698363.1:n.893T>C
ENST00000698364.1:n.893T>C
ENST00000698365.1:n.893T>C
ENST00000698426.1:c.509T>C	ENSP00000513713.1:p.Met170Thr
ENST00000698427.1:c.872T>C	ENSP00000513714.1:p.Met291Thr
ENST00000698428.1:c.509T>C	ENSP00000513715.1:p.Met170Thr
ENST00000698429.1:n.713T>C
ENST00000698430.1:c.1080T>C
ENST00000698431.1:c.567T>C	ENSP00000513717.1:n.567T>C
ENST00000698432.1:c.639T>C
ENST00000698433.1:n.292T>C
ENST00000698434.1:n.317T>C
ENST00000698435.1:c.518T>C	ENSP00000513719.1:p.Met173Thr
ENST00000244137.12:c.830T>C MANE Select	ENSP00000244137.5:p.Met277Thr
ENST00000588328.6:c.819T>C
ENST00000590731.6:n.505T>C
ENST00000651901.1:c.826T>C
ENST00000244137.11:c.830T>C	ENSP00000244137.5:p.Met277Thr
ENST00000397032.8:c.707T>C	ENSP00000380226.3:p.Met236Thr
ENST00000436370.7:c.638T>C	ENSP00000391890.2:p.Met213Thr
ENST00000588328.5:c.321T>C
ENST00000588719.5:n.465T>C
ENST00000590731.5:n.505T>C
ENST00000593163.5:n.995T>C
ENST00000609145.5:c.263T>C	ENSP00000476514.1:p.Met88Thr
NM_000285.3:c.830T>C	NP_000276.2:p.Met277Thr
NM_001166056.1:c.707T>C	NP_001159528.1:p.Met236Thr
NM_001166057.1:c.638T>C	NP_001159529.1:p.Met213Thr
NM_000285.4:c.830T>C MANE Select	NP_000276.2:p.Met277Thr
NM_001166056.2:c.707T>C	NP_001159528.1:p.Met236Thr
NM_001166057.2:c.638T>C	NP_001159529.1:p.Met213Thr