Canonical Allele Identifier: CA405230984

Gene: PEPD

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33490058C>G , CM000681.2:g.33490058C>G	GRCh38
NC_000019.9:g.33980964C>G , CM000681.1:g.33980964C>G	GRCh37
NC_000019.8:g.38672804C>G	NCBI36
NG_013358.1:g.36836G>C
NG_013358.2:g.36836G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000285.4:c.442-1G>C MANE Select	NP_000276.2:n.442-1G>C
ENST00000244137.12:c.442-1G>C MANE Select	ENSP00000244137.5:n.442-1G>C
NM_000285.3:c.442-1G>C	NP_000276.2:n.442-1G>C
NM_001166056.1:c.442-1G>C	NP_001159528.1:n.442-1G>C
NM_001166056.2:c.442-1G>C	NP_001159528.1:n.442-1G>C
NM_001166057.1:c.250-1G>C	NP_001159529.1:n.250-1G>C
NM_001166057.2:c.250-1G>C	NP_001159529.1:n.250-1G>C
ENST00000244137.11:c.442-1G>C	ENSP00000244137.5:n.442-1G>C
ENST00000397032.8:c.442-1G>C	ENSP00000380226.3:n.442-1G>C
ENST00000436370.7:c.250-1G>C	ENSP00000391890.2:n.250-1G>C
ENST00000588328.6:c.431-1G>C
ENST00000588328.7:c.442-1G>C	ENSP00000468516.4:n.442-1G>C
ENST00000590408.1:c.160-1G>C
ENST00000590755.6:c.49-1G>C	ENSP00000476667.1:n.49-1G>C
ENST00000593163.5:n.607-1G>C
ENST00000609145.5:c.-126-1G>C	ENSP00000476514.1:n.-126-1G>C
ENST00000651646.1:c.440-1G>C
ENST00000651646.2:c.442-1G>C	ENSP00000498950.2:n.442-1G>C
ENST00000651901.1:c.438-1G>C
ENST00000651901.2:c.442-1G>C	ENSP00000498922.2:n.442-1G>C
ENST00000698359.1:c.442-1G>C	ENSP00000513682.1:n.442-1G>C
ENST00000698360.1:c.442-1G>C	ENSP00000513683.1:n.442-1G>C
ENST00000698361.1:c.442-1G>C	ENSP00000513684.1:n.442-1G>C
ENST00000698362.1:c.442-1G>C	ENSP00000513685.1:n.442-1G>C
ENST00000698363.1:n.505-1G>C
ENST00000698364.1:n.505-1G>C
ENST00000698365.1:n.505-1G>C
ENST00000698426.1:c.121-1G>C	ENSP00000513713.1:n.121-1G>C
ENST00000698427.1:c.484-1G>C	ENSP00000513714.1:n.484-1G>C
ENST00000698428.1:c.121-1G>C	ENSP00000513715.1:n.121-1G>C
ENST00000698430.1:c.692-1G>C
ENST00000698431.1:c.240+3232G>C	ENSP00000513717.1:n.240+3232G>C
ENST00000698432.1:c.313-11968G>C
ENST00000698435.1:c.130-1G>C	ENSP00000513719.1:n.130-1G>C
ENST00000698436.1:c.*54-1G>C	ENSP00000513720.1:n.*54-1G>C
ENST00000698437.1:n.425-1G>C
ENST00000698438.1:n.424-1G>C
ENST00000698439.1:c.360+10880G>C	ENSP00000513721.1:n.360+10880G>C