Canonical Allele Identifier: CA456624447

Gene: PEX1

Linked Data

• gnomAD v4: 7-92517837-A-G
• MyVariant Identifiers: chr7:g.92147151A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517837A>G , CM000669.2:g.92517837A>G	GRCh38
NC_000007.13:g.92147151A>G , CM000669.1:g.92147151A>G	GRCh37
NC_000007.12:g.91985087A>G	NCBI36
NG_008341.1:g.15695T>C
NG_008341.2:g.15695T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.678T>C MANE Select	ENSP00000248633.4:p.Thr226=
ENST00000248633.8:c.678T>C	ENSP00000248633.4:p.Thr226=
ENST00000428214.5:c.678T>C	ENSP00000394413.1:p.Thr226=
ENST00000438045.5:c.274-3870T>C	ENSP00000410438.1:n.274-3870T>C
ENST00000484913.5:n.717T>C
NM_000466.2:c.678T>C	NP_000457.1:p.Thr226=
NM_001282677.1:c.678T>C	NP_001269606.1:p.Thr226=
NM_001282678.1:c.54T>C	NP_001269607.1:p.Thr18=
XR_242246.3:n.774T>C
XR_242246.5:n.725T>C
NM_000466.3:c.678T>C MANE Select	NP_000457.1:p.Thr226=
NM_001282677.2:c.678T>C	NP_001269606.1:p.Thr226=
NM_001282678.2:c.54T>C	NP_001269607.1:p.Thr18=