Canonical Allele Identifier: CA456483642

Gene: PEX1

Linked Data

• gnomAD v4: 7-92509334-A-G
• MyVariant Identifiers: chr7:g.92138648A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92509334A>G , CM000669.2:g.92509334A>G	GRCh38
NC_000007.13:g.92138648A>G , CM000669.1:g.92138648A>G	GRCh37
NC_000007.12:g.91976584A>G	NCBI36
NG_008341.1:g.24198T>C
NG_008341.2:g.24198T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1665T>C MANE Select	ENSP00000248633.4:p.Ser555=
ENST00000248633.8:c.1665T>C	ENSP00000248633.4:p.Ser555=
ENST00000422866.1:c.488+1610T>C
ENST00000428214.5:c.1665T>C	ENSP00000394413.1:p.Ser555=
ENST00000438045.5:c.699T>C	ENSP00000410438.1:p.Ser233=
ENST00000484913.5:n.1704T>C
NM_000466.2:c.1665T>C	NP_000457.1:p.Ser555=
NM_001282677.1:c.1665T>C	NP_001269606.1:p.Ser555=
NM_001282678.1:c.1041T>C	NP_001269607.1:p.Ser347=
XM_005250433.3:c.-80+1610T>C	XP_005250490.1:n.-80+1610T>C
XR_242246.3:n.1761T>C
XM_017012319.2:c.-80+1610T>C	XP_016867808.1:n.-80+1610T>C
XR_001744808.2:n.697+1610T>C
XR_242246.5:n.1712T>C
NM_000466.3:c.1665T>C MANE Select	NP_000457.1:p.Ser555=
NM_001282677.2:c.1665T>C	NP_001269606.1:p.Ser555=
NM_001282678.2:c.1041T>C	NP_001269607.1:p.Ser347=