Canonical Allele Identifier: CA368182796

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1919784
• ClinVar RCV Id: RCV002630388
• dbSNP Id: rs201443294
• MyVariant Identifiers: chr7:g.92134057C>A (hg19) ; chr7:g.92504743C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2060G>T MANE Select	ENSP00000248633.4:p.Arg687Leu
ENST00000248633.8:c.2060G>T	ENSP00000248633.4:p.Arg687Leu
ENST00000428214.5:c.1900+1505G>T	ENSP00000394413.1:n.1900+1505G>T
ENST00000438045.5:c.1094G>T	ENSP00000410438.1:p.Arg365Leu
ENST00000484913.5:n.2099G>T
ENST00000496420.5:n.1736G>T
NM_000466.2:c.2060G>T	NP_000457.1:p.Arg687Leu
NM_001282677.1:c.1900+1505G>T	NP_001269606.1:n.1900+1505G>T
NM_001282678.1:c.1436G>T	NP_001269607.1:p.Arg479Leu
XM_005250433.3:c.311G>T	XP_005250490.1:p.Arg104Leu
XR_242246.3:n.2156G>T
XM_017012319.2:c.311G>T	XP_016867808.1:p.Arg104Leu
XR_001744808.2:n.1087G>T
XR_242246.5:n.2107G>T
NM_000466.3:c.2060G>T MANE Select	NP_000457.1:p.Arg687Leu
NM_001282677.2:c.1900+1505G>T	NP_001269606.1:n.1900+1505G>T
NM_001282678.2:c.1436G>T	NP_001269607.1:p.Arg479Leu