Canonical Allele Identifier: CA368178847

Gene: PEX1

Linked Data

• gnomAD v4: 7-92502076-G-T
• MyVariant Identifiers: chr7:g.92131390G>T (hg19) ; chr7:g.92502076G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502076G>T , CM000669.2:g.92502076G>T	GRCh38
NC_000007.13:g.92131390G>T , CM000669.1:g.92131390G>T	GRCh37
NC_000007.12:g.91969326G>T	NCBI36
NG_008341.1:g.31456C>A
NG_008341.2:g.31456C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2230C>A MANE Select	ENSP00000248633.4:p.Gln744Lys
ENST00000248633.8:c.2230C>A	ENSP00000248633.4:p.Gln744Lys
ENST00000428214.5:c.2059C>A	ENSP00000394413.1:p.Gln687Lys
ENST00000438045.5:c.1264C>A	ENSP00000410438.1:p.Gln422Lys
ENST00000484913.5:n.2269C>A
ENST00000496092.1:n.28C>A
ENST00000496420.5:n.1906C>A
NM_000466.2:c.2230C>A	NP_000457.1:p.Gln744Lys
NM_001282677.1:c.2059C>A	NP_001269606.1:p.Gln687Lys
NM_001282678.1:c.1606C>A	NP_001269607.1:p.Gln536Lys
XM_005250433.3:c.481C>A	XP_005250490.1:p.Gln161Lys
XR_242246.3:n.2326C>A
XM_017012319.2:c.481C>A	XP_016867808.1:p.Gln161Lys
XR_001744808.2:n.1257C>A
XR_242246.5:n.2277C>A
NM_000466.3:c.2230C>A MANE Select	NP_000457.1:p.Gln744Lys
NM_001282677.2:c.2059C>A	NP_001269606.1:p.Gln687Lys
NM_001282678.2:c.1606C>A	NP_001269607.1:p.Gln536Lys