Canonical Allele Identifier: CA405230747

Gene: PEPD

Linked Data

• MyVariant Identifiers: chr19:g.33954925T>A (hg19) ; chr19:g.33464019T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33464019T>A , CM000681.2:g.33464019T>A	GRCh38
NC_000019.9:g.33954925T>A , CM000681.1:g.33954925T>A	GRCh37
NC_000019.8:g.38646765T>A	NCBI36
NG_013358.1:g.62875A>T
NG_013358.2:g.62875A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000588328.7:c.592A>T	ENSP00000468516.4:p.Thr198Ser
ENST00000651646.2:c.592A>T	ENSP00000498950.2:p.Thr198Ser
ENST00000651901.2:c.592A>T	ENSP00000498922.2:p.Thr198Ser
ENST00000698359.1:c.547A>T	ENSP00000513682.1:p.Thr183Ser
ENST00000698360.1:c.592A>T	ENSP00000513683.1:p.Thr198Ser
ENST00000698361.1:c.592A>T	ENSP00000513684.1:p.Thr198Ser
ENST00000698362.1:c.592A>T	ENSP00000513685.1:p.Thr198Ser
ENST00000698363.1:n.655A>T
ENST00000698364.1:n.655A>T
ENST00000698365.1:n.655A>T
ENST00000698426.1:c.271A>T	ENSP00000513713.1:p.Thr91Ser
ENST00000698427.1:c.634A>T	ENSP00000513714.1:p.Thr212Ser
ENST00000698428.1:c.271A>T	ENSP00000513715.1:p.Thr91Ser
ENST00000698430.1:c.842A>T
ENST00000698431.1:c.329A>T	ENSP00000513717.1:n.329A>T
ENST00000698432.1:c.401A>T
ENST00000698435.1:c.280A>T	ENSP00000513719.1:p.Thr94Ser
ENST00000698436.1:c.*204A>T	ENSP00000513720.1:n.*204A>T
ENST00000698437.1:n.575A>T
ENST00000698438.1:n.574A>T
ENST00000698439.1:c.449A>T	ENSP00000513721.1:n.449A>T
ENST00000244137.12:c.592A>T MANE Select	ENSP00000244137.5:p.Thr198Ser
ENST00000588328.6:c.581A>T
ENST00000590731.6:n.267A>T
ENST00000651646.1:c.590A>T
ENST00000651901.1:c.588A>T
ENST00000244137.11:c.592A>T	ENSP00000244137.5:p.Thr198Ser
ENST00000397032.8:c.548+14027A>T	ENSP00000380226.3:n.548+14027A>T
ENST00000436370.7:c.400A>T	ENSP00000391890.2:p.Thr134Ser
ENST00000588328.5:c.83A>T
ENST00000588719.5:n.227A>T
ENST00000590408.1:c.310A>T
ENST00000590731.5:n.267A>T
ENST00000590755.6:c.419A>T	ENSP00000476667.1:n.419A>T
ENST00000593163.5:n.757A>T
ENST00000609145.5:c.25A>T	ENSP00000476514.1:p.Thr9Ser
NM_000285.3:c.592A>T	NP_000276.2:p.Thr198Ser
NM_001166056.1:c.548+14027A>T	NP_001159528.1:n.548+14027A>T
NM_001166057.1:c.400A>T	NP_001159529.1:p.Thr134Ser
NM_000285.4:c.592A>T MANE Select	NP_000276.2:p.Thr198Ser
NM_001166056.2:c.548+14027A>T	NP_001159528.1:n.548+14027A>T
NM_001166057.2:c.400A>T	NP_001159529.1:p.Thr134Ser