Canonical Allele Identifier: CA456483462

Gene: PEX1

Linked Data

• gnomAD v4: 7-92506251-G-T
• MyVariant Identifiers: chr7:g.92135565G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506251G>T , CM000669.2:g.92506251G>T	GRCh38
NC_000007.13:g.92135565G>T , CM000669.1:g.92135565G>T	GRCh37
NC_000007.12:g.91973501G>T	NCBI36
NG_008341.1:g.27281C>A
NG_008341.2:g.27281C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1897C>A MANE Select	ENSP00000248633.4:p.Arg633=
ENST00000248633.8:c.1897C>A	ENSP00000248633.4:p.Arg633=
ENST00000422866.1:c.715C>A
ENST00000428214.5:c.1897C>A	ENSP00000394413.1:p.Arg633=
ENST00000438045.5:c.931C>A	ENSP00000410438.1:p.Arg311=
ENST00000484913.5:n.1936C>A
ENST00000496420.5:n.1573C>A
NM_000466.2:c.1897C>A	NP_000457.1:p.Arg633=
NM_001282677.1:c.1897C>A	NP_001269606.1:p.Arg633=
NM_001282678.1:c.1273C>A	NP_001269607.1:p.Arg425=
XM_005250433.3:c.148C>A	XP_005250490.1:p.Arg50=
XR_242246.3:n.1993C>A
XM_017012319.2:c.148C>A	XP_016867808.1:p.Arg50=
XR_001744808.2:n.924C>A
XR_242246.5:n.1944C>A
NM_000466.3:c.1897C>A MANE Select	NP_000457.1:p.Arg633=
NM_001282677.2:c.1897C>A	NP_001269606.1:p.Arg633=
NM_001282678.2:c.1273C>A	NP_001269607.1:p.Arg425=