Canonical Allele Identifier: CA456483266

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92134074A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504760A>G , CM000669.2:g.92504760A>G	GRCh38
NC_000007.13:g.92134074A>G , CM000669.1:g.92134074A>G	GRCh37
NC_000007.12:g.91972010A>G	NCBI36
NG_008341.1:g.28772T>C
NG_008341.2:g.28772T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2043T>C MANE Select	ENSP00000248633.4:p.Asp681=
ENST00000248633.8:c.2043T>C	ENSP00000248633.4:p.Asp681=
ENST00000428214.5:c.1900+1488T>C	ENSP00000394413.1:n.1900+1488T>C
ENST00000438045.5:c.1077T>C	ENSP00000410438.1:p.Asp359=
ENST00000484913.5:n.2082T>C
ENST00000496420.5:n.1719T>C
NM_000466.2:c.2043T>C	NP_000457.1:p.Asp681=
NM_001282677.1:c.1900+1488T>C	NP_001269606.1:n.1900+1488T>C
NM_001282678.1:c.1419T>C	NP_001269607.1:p.Asp473=
XM_005250433.3:c.294T>C	XP_005250490.1:p.Asp98=
XR_242246.3:n.2139T>C
XM_017012319.2:c.294T>C	XP_016867808.1:p.Asp98=
XR_001744808.2:n.1070T>C
XR_242246.5:n.2090T>C
NM_000466.3:c.2043T>C MANE Select	NP_000457.1:p.Asp681=
NM_001282677.2:c.1900+1488T>C	NP_001269606.1:n.1900+1488T>C
NM_001282678.2:c.1419T>C	NP_001269607.1:p.Asp473=