Canonical Allele Identifier: CA368190010

Gene: PEX1

Linked Data

• gnomAD v4: 7-92510972-G-T
• MyVariant Identifiers: chr7:g.92140286G>T (hg19) ; chr7:g.92510972G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510972G>T , CM000669.2:g.92510972G>T	GRCh38
NC_000007.13:g.92140286G>T , CM000669.1:g.92140286G>T	GRCh37
NC_000007.12:g.91978222G>T	NCBI36
NG_008341.1:g.22560C>A
NG_008341.2:g.22560C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1559C>A MANE Select	ENSP00000248633.4:p.Pro520His
ENST00000248633.8:c.1559C>A	ENSP00000248633.4:p.Pro520His
ENST00000422866.1:c.460C>A
ENST00000428214.5:c.1559C>A	ENSP00000394413.1:p.Pro520His
ENST00000438045.5:c.593C>A	ENSP00000410438.1:p.Pro198His
ENST00000476923.1:n.320C>A
ENST00000484913.5:n.1598C>A
NM_000466.2:c.1559C>A	NP_000457.1:p.Pro520His
NM_001282677.1:c.1559C>A	NP_001269606.1:p.Pro520His
NM_001282678.1:c.935C>A	NP_001269607.1:p.Pro312His
XM_005250433.3:c.-108C>A	XP_005250490.1:n.-108C>A
XR_242246.3:n.1655C>A
XM_017012319.2:c.-108C>A	XP_016867808.1:n.-108C>A
XR_001744808.2:n.669C>A
XR_242246.5:n.1606C>A
NM_000466.3:c.1559C>A MANE Select	NP_000457.1:p.Pro520His
NM_001282677.2:c.1559C>A	NP_001269606.1:p.Pro520His
NM_001282678.2:c.935C>A	NP_001269607.1:p.Pro312His