Canonical Allele Identifier: CA456483293

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92134116A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504802A>G , CM000669.2:g.92504802A>G	GRCh38
NC_000007.13:g.92134116A>G , CM000669.1:g.92134116A>G	GRCh37
NC_000007.12:g.91972052A>G	NCBI36
NG_008341.1:g.28730T>C
NG_008341.2:g.28730T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2001T>C MANE Select	ENSP00000248633.4:p.Ile667=
ENST00000248633.8:c.2001T>C	ENSP00000248633.4:p.Ile667=
ENST00000428214.5:c.1900+1446T>C	ENSP00000394413.1:n.1900+1446T>C
ENST00000438045.5:c.1035T>C	ENSP00000410438.1:p.Ile345=
ENST00000484913.5:n.2040T>C
ENST00000496420.5:n.1677T>C
NM_000466.2:c.2001T>C	NP_000457.1:p.Ile667=
NM_001282677.1:c.1900+1446T>C	NP_001269606.1:n.1900+1446T>C
NM_001282678.1:c.1377T>C	NP_001269607.1:p.Ile459=
XM_005250433.3:c.252T>C	XP_005250490.1:p.Ile84=
XR_242246.3:n.2097T>C
XM_017012319.2:c.252T>C	XP_016867808.1:p.Ile84=
XR_001744808.2:n.1028T>C
XR_242246.5:n.2048T>C
NM_000466.3:c.2001T>C MANE Select	NP_000457.1:p.Ile667=
NM_001282677.2:c.1900+1446T>C	NP_001269606.1:n.1900+1446T>C
NM_001282678.2:c.1377T>C	NP_001269607.1:p.Ile459=