Canonical Allele Identifier: CA405230720

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33954913A>G (hg19) ; chr19:g.33464007A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33464007A>G , CM000681.2:g.33464007A>G	GRCh38
NC_000019.9:g.33954913A>G , CM000681.1:g.33954913A>G	GRCh37
NC_000019.8:g.38646753A>G	NCBI36
NG_013358.1:g.62887T>C
NG_013358.2:g.62887T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.604T>C	ENSP00000468516.4:p.Ser202Pro
ENST00000651646.2:c.604T>C	ENSP00000498950.2:p.Ser202Pro
ENST00000651901.2:c.604T>C	ENSP00000498922.2:p.Ser202Pro
ENST00000698359.1:c.559T>C	ENSP00000513682.1:p.Ser187Pro
ENST00000698360.1:c.604T>C	ENSP00000513683.1:p.Ser202Pro
ENST00000698361.1:c.604T>C	ENSP00000513684.1:p.Ser202Pro
ENST00000698362.1:c.604T>C	ENSP00000513685.1:p.Ser202Pro
ENST00000698363.1:n.667T>C
ENST00000698364.1:n.667T>C
ENST00000698365.1:n.667T>C
ENST00000698426.1:c.283T>C	ENSP00000513713.1:p.Ser95Pro
ENST00000698427.1:c.646T>C	ENSP00000513714.1:p.Ser216Pro
ENST00000698428.1:c.283T>C	ENSP00000513715.1:p.Ser95Pro
ENST00000698430.1:c.854T>C
ENST00000698431.1:c.341T>C	ENSP00000513717.1:n.341T>C
ENST00000698432.1:c.413T>C
ENST00000698435.1:c.292T>C	ENSP00000513719.1:p.Ser98Pro
ENST00000698436.1:c.*216T>C	ENSP00000513720.1:n.*216T>C
ENST00000698437.1:n.587T>C
ENST00000698438.1:n.586T>C
ENST00000698439.1:c.461T>C	ENSP00000513721.1:n.461T>C
ENST00000244137.12:c.604T>C MANE Select	ENSP00000244137.5:p.Ser202Pro
ENST00000588328.6:c.593T>C
ENST00000590731.6:n.279T>C
ENST00000651646.1:c.602T>C
ENST00000651901.1:c.600T>C
ENST00000244137.11:c.604T>C	ENSP00000244137.5:p.Ser202Pro
ENST00000397032.8:c.548+14039T>C	ENSP00000380226.3:n.548+14039T>C
ENST00000436370.7:c.412T>C	ENSP00000391890.2:p.Ser138Pro
ENST00000588328.5:c.95T>C
ENST00000588719.5:n.239T>C
ENST00000590408.1:c.322T>C
ENST00000590731.5:n.279T>C
ENST00000590755.6:c.431T>C	ENSP00000476667.1:n.431T>C
ENST00000593163.5:n.769T>C
ENST00000609145.5:c.37T>C	ENSP00000476514.1:p.Ser13Pro
NM_000285.3:c.604T>C	NP_000276.2:p.Ser202Pro
NM_001166056.1:c.548+14039T>C	NP_001159528.1:n.548+14039T>C
NM_001166057.1:c.412T>C	NP_001159529.1:p.Ser138Pro
NM_000285.4:c.604T>C MANE Select	NP_000276.2:p.Ser202Pro
NM_001166056.2:c.548+14039T>C	NP_001159528.1:n.548+14039T>C
NM_001166057.2:c.412T>C	NP_001159529.1:p.Ser138Pro