Canonical Allele Identifier: CA1197321

Gene: PEX19

Linked Data

• ClinVar Variation Id: 498142
• ClinVar RCV Id: RCV000592976 ; RCV001080432 ; RCV003905524
• dbSNP Id: rs149058086
• ExAC: 1:160251859 C / T
• gnomAD v2: 1-160251859-C-T
• gnomAD v3: 1-160282069-C-T
• gnomAD v4: 1-160282069-C-T
• MyVariant Identifiers: chr1:g.160251859C>T (hg19) ; chr1:g.160282069C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160282069C>T , CM000663.2:g.160282069C>T	GRCh38
NC_000001.10:g.160251859C>T , CM000663.1:g.160251859C>T	GRCh37
NC_000001.9:g.158518483C>T	NCBI36
NG_008637.1:g.8083G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368072.10:c.564G>A MANE Select	ENSP00000357051.5:p.Leu188=
ENST00000556710.6:c.*245G>A	ENSP00000451235.2:n.*245G>A
ENST00000368072.9:c.564G>A	ENSP00000357051.5:p.Leu188=
ENST00000392220.2:c.504G>A	ENSP00000376054.2:p.Leu168=
ENST00000462644.5:c.418G>A	ENSP00000435896.1:p.Val140Ile
ENST00000472750.5:c.*331G>A	ENSP00000434633.1:n.*331G>A
ENST00000485079.1:c.174G>A	ENSP00000450870.1:p.Leu58=
ENST00000495624.1:c.76G>A
ENST00000532508.5:n.536G>A
ENST00000532516.1:n.451G>A
ENST00000532643.5:c.478G>A	ENSP00000435915.1:p.Val160Ile
ENST00000556710.5:c.123G>A	ENSP00000451235.1:p.Leu41=
NM_001193644.1:c.564G>A	NP_001180573.1:p.Leu188=
NM_002857.3:c.564G>A	NP_002848.1:p.Leu188=
NR_036492.1:n.481G>A
NR_036493.1:n.505G>A
NM_002857.4:c.564G>A MANE Select	NP_002848.1:p.Leu188=
NR_036492.2:n.463G>A
NR_036493.2:n.487G>A