Canonical Allele Identifier: CA368187618

Gene: PEX1

Linked Data

• gnomAD v4: 7-92507053-G-C
• MyVariant Identifiers: chr7:g.92136367G>C (hg19) ; chr7:g.92507053G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92507053G>C , CM000669.2:g.92507053G>C	GRCh38
NC_000007.13:g.92136367G>C , CM000669.1:g.92136367G>C	GRCh37
NC_000007.12:g.91974303G>C	NCBI36
NG_008341.1:g.26479C>G
NG_008341.2:g.26479C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1744C>G MANE Select	ENSP00000248633.4:p.Gln582Glu
ENST00000248633.8:c.1744C>G	ENSP00000248633.4:p.Gln582Glu
ENST00000422866.1:c.562C>G
ENST00000428214.5:c.1744C>G	ENSP00000394413.1:p.Gln582Glu
ENST00000438045.5:c.778C>G	ENSP00000410438.1:p.Gln260Glu
ENST00000484913.5:n.1783C>G
ENST00000496420.5:n.771C>G
NM_000466.2:c.1744C>G	NP_000457.1:p.Gln582Glu
NM_001282677.1:c.1744C>G	NP_001269606.1:p.Gln582Glu
NM_001282678.1:c.1120C>G	NP_001269607.1:p.Gln374Glu
XM_005250433.3:c.-6C>G	XP_005250490.1:n.-6C>G
XR_242246.3:n.1840C>G
XM_017012319.2:c.-6C>G	XP_016867808.1:n.-6C>G
XR_001744808.2:n.771C>G
XR_242246.5:n.1791C>G
NM_000466.3:c.1744C>G MANE Select	NP_000457.1:p.Gln582Glu
NM_001282677.2:c.1744C>G	NP_001269606.1:p.Gln582Glu
NM_001282678.2:c.1120C>G	NP_001269607.1:p.Gln374Glu