Canonical Allele Identifier: CA1197463

Gene: PEX19

Linked Data

• ClinVar Variation Id: 500081
• ClinVar RCV Id: RCV000596452 ; RCV001412677 ; RCV003962696
• dbSNP Id: rs540593146
• ExAC: 1:160253338 C / T
• gnomAD v2: 1-160253338-C-T
• gnomAD v3: 1-160283548-C-T
• gnomAD v4: 1-160283548-C-T
• COSMIC: COSM898253
• MyVariant Identifiers: chr1:g.160253338C>T (hg19) ; chr1:g.160283548C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160283548C>T , CM000663.2:g.160283548C>T	GRCh38
NC_000001.10:g.160253338C>T , CM000663.1:g.160253338C>T	GRCh37
NC_000001.9:g.158519962C>T	NCBI36
NG_008637.1:g.6604G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368072.10:c.162G>A MANE Select	ENSP00000357051.5:p.Ser54=
ENST00000556710.6:c.71-439G>A	ENSP00000451235.2:n.71-439G>A
ENST00000368072.9:c.162G>A	ENSP00000357051.5:p.Ser54=
ENST00000392220.2:c.102G>A	ENSP00000376054.2:p.Ser34=
ENST00000462644.5:c.102G>A	ENSP00000435896.1:p.Ser34=
ENST00000472750.5:c.71-439G>A	ENSP00000434633.1:n.71-439G>A
ENST00000524939.1:n.179G>A
ENST00000532508.5:n.134G>A
ENST00000532643.5:c.162G>A	ENSP00000435915.1:p.Ser54=
ENST00000533104.1:n.80-439G>A
ENST00000533699.5:n.156G>A
ENST00000556710.5:c.-175-439G>A	ENSP00000451235.1:n.-175-439G>A
NM_001193644.1:c.162G>A	NP_001180573.1:p.Ser54=
NM_002857.3:c.162G>A	NP_002848.1:p.Ser54=
NR_036492.1:n.98-439G>A
NR_036493.1:n.189G>A
NM_002857.4:c.162G>A MANE Select	NP_002848.1:p.Ser54=
NR_036492.2:n.80-439G>A
NR_036493.2:n.171G>A