Canonical Allele Identifier: CA368202444

Gene: PEX1

Linked Data

• gnomAD v4: 7-92518216-G-C
• MyVariant Identifiers: chr7:g.92147530G>C (hg19) ; chr7:g.92518216G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518216G>C , CM000669.2:g.92518216G>C	GRCh38
NC_000007.13:g.92147530G>C , CM000669.1:g.92147530G>C	GRCh37
NC_000007.12:g.91985466G>C	NCBI36
NG_008341.1:g.15316C>G
NG_008341.2:g.15316C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.397C>G MANE Select	ENSP00000248633.4:p.Gln133Glu
ENST00000248633.8:c.397C>G	ENSP00000248633.4:p.Gln133Glu
ENST00000428214.5:c.397C>G	ENSP00000394413.1:p.Gln133Glu
ENST00000438045.5:c.273+3886C>G	ENSP00000410438.1:n.273+3886C>G
ENST00000484913.5:n.436C>G
NM_000466.2:c.397C>G	NP_000457.1:p.Gln133Glu
NM_001282677.1:c.397C>G	NP_001269606.1:p.Gln133Glu
NM_001282678.1:c.-228C>G	NP_001269607.1:n.-228C>G
XR_242246.3:n.493C>G
XR_242246.5:n.444C>G
NM_000466.3:c.397C>G MANE Select	NP_000457.1:p.Gln133Glu
NM_001282677.2:c.397C>G	NP_001269606.1:p.Gln133Glu
NM_001282678.2:c.-228C>G	NP_001269607.1:n.-228C>G