Canonical Allele Identifier: CA4341225

Gene: PEX1

Linked Data

• ClinVar Variation Id: 498170
• ClinVar RCV Id: RCV002531017
• dbSNP Id: rs201443294
• ExAC: 7:92134057 C / T
• gnomAD v2: 7-92134057-C-T
• gnomAD v3: 7-92504743-C-T
• gnomAD v4: 7-92504743-C-T
• COSMIC: COSM3883369
• MyVariant Identifiers: chr7:g.92134057C>T (hg19) ; chr7:g.92504743C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504743C>T , CM000669.2:g.92504743C>T	GRCh38
NC_000007.13:g.92134057C>T , CM000669.1:g.92134057C>T	GRCh37
NC_000007.12:g.91971993C>T	NCBI36
NG_008341.1:g.28789G>A
NG_008341.2:g.28789G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2060G>A MANE Select	ENSP00000248633.4:p.Arg687Gln
ENST00000248633.8:c.2060G>A	ENSP00000248633.4:p.Arg687Gln
ENST00000428214.5:c.1900+1505G>A	ENSP00000394413.1:n.1900+1505G>A
ENST00000438045.5:c.1094G>A	ENSP00000410438.1:p.Arg365Gln
ENST00000484913.5:n.2099G>A
ENST00000496420.5:n.1736G>A
NM_000466.2:c.2060G>A	NP_000457.1:p.Arg687Gln
NM_001282677.1:c.1900+1505G>A	NP_001269606.1:n.1900+1505G>A
NM_001282678.1:c.1436G>A	NP_001269607.1:p.Arg479Gln
XM_005250433.3:c.311G>A	XP_005250490.1:p.Arg104Gln
XR_242246.3:n.2156G>A
XM_017012319.2:c.311G>A	XP_016867808.1:p.Arg104Gln
XR_001744808.2:n.1087G>A
XR_242246.5:n.2107G>A
NM_000466.3:c.2060G>A MANE Select	NP_000457.1:p.Arg687Gln
NM_001282677.2:c.1900+1505G>A	NP_001269606.1:n.1900+1505G>A
NM_001282678.2:c.1436G>A	NP_001269607.1:p.Arg479Gln