Canonical Allele Identifier: CA368184232

Gene: PEX1

Linked Data

• gnomAD v4: 7-92504895-C-A
• COSMIC: COSM5062670
• MyVariant Identifiers: chr7:g.92134209C>A (hg19) ; chr7:g.92504895C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504895C>A , CM000669.2:g.92504895C>A	GRCh38
NC_000007.13:g.92134209C>A , CM000669.1:g.92134209C>A	GRCh37
NC_000007.12:g.91972145C>A	NCBI36
NG_008341.1:g.28637G>T
NG_008341.2:g.28637G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1908G>T MANE Select	ENSP00000248633.4:p.Arg636Ser
ENST00000248633.8:c.1908G>T	ENSP00000248633.4:p.Arg636Ser
ENST00000422866.1:c.726G>T
ENST00000428214.5:c.1900+1353G>T	ENSP00000394413.1:n.1900+1353G>T
ENST00000438045.5:c.942G>T	ENSP00000410438.1:p.Arg314Ser
ENST00000484913.5:n.1947G>T
ENST00000496420.5:n.1584G>T
NM_000466.2:c.1908G>T	NP_000457.1:p.Arg636Ser
NM_001282677.1:c.1900+1353G>T	NP_001269606.1:n.1900+1353G>T
NM_001282678.1:c.1284G>T	NP_001269607.1:p.Arg428Ser
XM_005250433.3:c.159G>T	XP_005250490.1:p.Arg53Ser
XR_242246.3:n.2004G>T
XM_017012319.2:c.159G>T	XP_016867808.1:p.Arg53Ser
XR_001744808.2:n.935G>T
XR_242246.5:n.1955G>T
NM_000466.3:c.1908G>T MANE Select	NP_000457.1:p.Arg636Ser
NM_001282677.2:c.1900+1353G>T	NP_001269606.1:n.1900+1353G>T
NM_001282678.2:c.1284G>T	NP_001269607.1:p.Arg428Ser