Canonical Allele Identifier: CA1197427

Gene: PEX19

Linked Data

• ClinVar Variation Id: 288371
• ClinVar RCV Id: RCV000361993 ; RCV001079090 ; RCV003940051
• dbSNP Id: rs150928521
• ExAC: 1:160252825 C / T
• gnomAD v2: 1-160252825-C-T
• gnomAD v3: 1-160283035-C-T
• gnomAD v4: 1-160283035-C-T
• COSMIC: COSM4024125
• MyVariant Identifiers: chr1:g.160252825C>T (hg19) ; chr1:g.160283035C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.160283035C>T , CM000663.2:g.160283035C>T	GRCh38
NC_000001.10:g.160252825C>T , CM000663.1:g.160252825C>T	GRCh37
NC_000001.9:g.158519449C>T	NCBI36
NG_008637.1:g.7117G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368072.10:c.255G>A MANE Select	ENSP00000357051.5:p.Ala85=
ENST00000556710.6:c.*22G>A	ENSP00000451235.2:n.*22G>A
ENST00000368072.9:c.255G>A	ENSP00000357051.5:p.Ala85=
ENST00000392220.2:c.195G>A	ENSP00000376054.2:p.Ala65=
ENST00000462644.5:c.195G>A	ENSP00000435896.1:p.Ala65=
ENST00000472750.5:c.*22G>A	ENSP00000434633.1:n.*22G>A
ENST00000524939.1:n.272G>A
ENST00000532508.5:n.227G>A
ENST00000532643.5:c.255G>A	ENSP00000435915.1:p.Ala85=
ENST00000533104.1:n.154G>A
ENST00000533699.5:n.249G>A
ENST00000556710.5:c.-101G>A	ENSP00000451235.1:n.-101G>A
NM_001193644.1:c.255G>A	NP_001180573.1:p.Ala85=
NM_002857.3:c.255G>A	NP_002848.1:p.Ala85=
NR_036492.1:n.172G>A
NR_036493.1:n.282G>A
NM_002857.4:c.255G>A MANE Select	NP_002848.1:p.Ala85=
NR_036492.2:n.154G>A
NR_036493.2:n.264G>A