Canonical Allele Identifier: CA1197346

Gene: PEX19

Linked Data

• ClinVar Variation Id: 293228
• ClinVar RCV Id: RCV000910722 ; RCV000728128 ; RCV002059340 ; RCV003957533
• dbSNP Id: rs78340311
• ExAC: 1:160251964 C / T
• gnomAD v2: 1-160251964-C-T
• gnomAD v3: 1-160282174-C-T
• gnomAD v4: 1-160282174-C-T
• MyVariant Identifiers: chr1:g.160251964C>T (hg19) ; chr1:g.160282174C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160282174C>T , CM000663.2:g.160282174C>T	GRCh38
NC_000001.10:g.160251964C>T , CM000663.1:g.160251964C>T	GRCh37
NC_000001.9:g.158518588C>T	NCBI36
NG_008637.1:g.7978G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368072.10:c.459G>A MANE Select	ENSP00000357051.5:p.Leu153=
ENST00000556710.6:c.*140G>A	ENSP00000451235.2:n.*140G>A
ENST00000368072.9:c.459G>A	ENSP00000357051.5:p.Leu153=
ENST00000392220.2:c.399G>A	ENSP00000376054.2:p.Leu133=
ENST00000462644.5:c.313G>A	ENSP00000435896.1:p.Asp105Asn
ENST00000472750.5:c.*226G>A	ENSP00000434633.1:n.*226G>A
ENST00000485079.1:c.69G>A	ENSP00000450870.1:p.Leu23=
ENST00000532508.5:n.431G>A
ENST00000532516.1:n.346G>A
ENST00000532643.5:c.373G>A	ENSP00000435915.1:p.Asp125Asn
ENST00000533104.1:n.476G>A
ENST00000533699.5:n.453G>A
ENST00000556710.5:c.18G>A	ENSP00000451235.1:p.Leu6=
NM_001193644.1:c.459G>A	NP_001180573.1:p.Leu153=
NM_002857.3:c.459G>A	NP_002848.1:p.Leu153=
NR_036492.1:n.376G>A
NR_036493.1:n.400G>A
NM_002857.4:c.459G>A MANE Select	NP_002848.1:p.Leu153=
NR_036492.2:n.358G>A
NR_036493.2:n.382G>A