Canonical Allele Identifier: CA9363969

Gene: PEPD

Linked Data

• ClinVar Variation Id: 328796
• ClinVar RCV Id: RCV000284801 ; RCV000514422
• dbSNP Id: rs2230062
• ExAC: 19:33878977 C / T
• gnomAD v2: 19-33878977-C-T
• gnomAD v3: 19-33388071-C-T
• gnomAD v4: 19-33388071-C-T
• MyVariant Identifiers: chr19:g.33878977C>T (hg19) ; chr19:g.33388071C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.33388071C>T , CM000681.2:g.33388071C>T	GRCh38
NC_000019.9:g.33878977C>T , CM000681.1:g.33878977C>T	GRCh37
NC_000019.8:g.38570817C>T	NCBI36
NG_013358.1:g.138823G>A
NG_013358.2:g.138823G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000588328.7:c.1229G>A	ENSP00000468516.4:p.Arg410His
ENST00000651901.2:c.1163G>A	ENSP00000498922.2:p.Arg388His
ENST00000698359.1:c.1118G>A	ENSP00000513682.1:p.Arg373His
ENST00000698360.1:c.1214G>A	ENSP00000513683.1:p.Arg405His
ENST00000698361.1:c.1279G>A	ENSP00000513684.1:p.Ala427Thr
ENST00000698362.1:c.978G>A	ENSP00000513685.1:p.Ala326=
ENST00000698426.1:c.842G>A	ENSP00000513713.1:p.Arg281His
ENST00000698427.1:c.1205G>A	ENSP00000513714.1:p.Arg402His
ENST00000698428.1:c.842G>A	ENSP00000513715.1:p.Arg281His
ENST00000698429.1:n.1046G>A
ENST00000698430.1:c.1413G>A
ENST00000698431.1:c.900G>A	ENSP00000513717.1:n.900G>A
ENST00000698432.1:c.972G>A
ENST00000698433.1:n.625G>A
ENST00000244137.12:c.1163G>A MANE Select	ENSP00000244137.5:p.Arg388His
ENST00000588328.6:c.1218G>A
ENST00000590731.6:n.838G>A
ENST00000651901.1:c.1159G>A
ENST00000244137.11:c.1163G>A	ENSP00000244137.5:p.Arg388His
ENST00000397032.8:c.1040G>A	ENSP00000380226.3:p.Arg347His
ENST00000436370.7:c.971G>A	ENSP00000391890.2:p.Arg324His
ENST00000591968.1:n.235G>A
ENST00000593085.1:n.1050G>A
NM_000285.3:c.1163G>A	NP_000276.2:p.Arg388His
NM_001166056.1:c.1040G>A	NP_001159528.1:p.Arg347His
NM_001166057.1:c.971G>A	NP_001159529.1:p.Arg324His
NM_000285.4:c.1163G>A MANE Select	NP_000276.2:p.Arg388His
NM_001166056.2:c.1040G>A	NP_001159528.1:p.Arg347His
NM_001166057.2:c.971G>A	NP_001159529.1:p.Arg324His