Canonical Allele Identifier: CA368177767

Gene: PEX1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501983C>G , CM000669.2:g.92501983C>G	GRCh38
NC_000007.13:g.92131297C>G , CM000669.1:g.92131297C>G	GRCh37
NC_000007.12:g.91969233C>G	NCBI36
NG_008341.1:g.31549G>C
NG_008341.2:g.31549G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2323G>C MANE Select	ENSP00000248633.4:p.Glu775Gln
ENST00000248633.8:c.2323G>C	ENSP00000248633.4:p.Glu775Gln
ENST00000428214.5:c.2152G>C	ENSP00000394413.1:p.Glu718Gln
ENST00000438045.5:c.1357G>C	ENSP00000410438.1:p.Glu453Gln
ENST00000484913.5:n.2362G>C
ENST00000496092.1:n.121G>C
ENST00000496420.5:n.1999G>C
NM_000466.2:c.2323G>C	NP_000457.1:p.Glu775Gln
NM_001282677.1:c.2152G>C	NP_001269606.1:p.Glu718Gln
NM_001282678.1:c.1699G>C	NP_001269607.1:p.Glu567Gln
XM_005250433.3:c.574G>C	XP_005250490.1:p.Glu192Gln
XR_242246.3:n.2419G>C
XM_017012319.2:c.574G>C	XP_016867808.1:p.Glu192Gln
XR_001744808.2:n.1350G>C
XR_242246.5:n.2370G>C
NM_000466.3:c.2323G>C MANE Select	NP_000457.1:p.Glu775Gln
NM_001282677.2:c.2152G>C	NP_001269606.1:p.Glu718Gln
NM_001282678.2:c.1699G>C	NP_001269607.1:p.Glu567Gln