Canonical Allele Identifier: CA405230731

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33954918T>A (hg19) ; chr19:g.33464012T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33464012T>A , CM000681.2:g.33464012T>A	GRCh38
NC_000019.9:g.33954918T>A , CM000681.1:g.33954918T>A	GRCh37
NC_000019.8:g.38646758T>A	NCBI36
NG_013358.1:g.62882A>T
NG_013358.2:g.62882A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.599A>T	ENSP00000468516.4:p.Lys200Ile
ENST00000651646.2:c.599A>T	ENSP00000498950.2:p.Lys200Ile
ENST00000651901.2:c.599A>T	ENSP00000498922.2:p.Lys200Ile
ENST00000698359.1:c.554A>T	ENSP00000513682.1:p.Lys185Ile
ENST00000698360.1:c.599A>T	ENSP00000513683.1:p.Lys200Ile
ENST00000698361.1:c.599A>T	ENSP00000513684.1:p.Lys200Ile
ENST00000698362.1:c.599A>T	ENSP00000513685.1:p.Lys200Ile
ENST00000698363.1:n.662A>T
ENST00000698364.1:n.662A>T
ENST00000698365.1:n.662A>T
ENST00000698426.1:c.278A>T	ENSP00000513713.1:p.Lys93Ile
ENST00000698427.1:c.641A>T	ENSP00000513714.1:p.Lys214Ile
ENST00000698428.1:c.278A>T	ENSP00000513715.1:p.Lys93Ile
ENST00000698430.1:c.849A>T
ENST00000698431.1:c.336A>T	ENSP00000513717.1:n.336A>T
ENST00000698432.1:c.408A>T
ENST00000698435.1:c.287A>T	ENSP00000513719.1:p.Lys96Ile
ENST00000698436.1:c.*211A>T	ENSP00000513720.1:n.*211A>T
ENST00000698437.1:n.582A>T
ENST00000698438.1:n.581A>T
ENST00000698439.1:c.456A>T	ENSP00000513721.1:n.456A>T
ENST00000244137.12:c.599A>T MANE Select	ENSP00000244137.5:p.Lys200Ile
ENST00000588328.6:c.588A>T
ENST00000590731.6:n.274A>T
ENST00000651646.1:c.597A>T
ENST00000651901.1:c.595A>T
ENST00000244137.11:c.599A>T	ENSP00000244137.5:p.Lys200Ile
ENST00000397032.8:c.548+14034A>T	ENSP00000380226.3:n.548+14034A>T
ENST00000436370.7:c.407A>T	ENSP00000391890.2:p.Lys136Ile
ENST00000588328.5:c.90A>T
ENST00000588719.5:n.234A>T
ENST00000590408.1:c.317A>T
ENST00000590731.5:n.274A>T
ENST00000590755.6:c.426A>T	ENSP00000476667.1:n.426A>T
ENST00000593163.5:n.764A>T
ENST00000609145.5:c.32A>T	ENSP00000476514.1:p.Lys11Ile
NM_000285.3:c.599A>T	NP_000276.2:p.Lys200Ile
NM_001166056.1:c.548+14034A>T	NP_001159528.1:n.548+14034A>T
NM_001166057.1:c.407A>T	NP_001159529.1:p.Lys136Ile
NM_000285.4:c.599A>T MANE Select	NP_000276.2:p.Lys200Ile
NM_001166056.2:c.548+14034A>T	NP_001159528.1:n.548+14034A>T
NM_001166057.2:c.407A>T	NP_001159529.1:p.Lys136Ile