Canonical Allele Identifier: CA368177673

Gene: PEX1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501977C>G , CM000669.2:g.92501977C>G	GRCh38
NC_000007.13:g.92131291C>G , CM000669.1:g.92131291C>G	GRCh37
NC_000007.12:g.91969227C>G	NCBI36
NG_008341.1:g.31555G>C
NG_008341.2:g.31555G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2329G>C MANE Select	ENSP00000248633.4:p.Gly777Arg
ENST00000248633.8:c.2329G>C	ENSP00000248633.4:p.Gly777Arg
ENST00000428214.5:c.2158G>C	ENSP00000394413.1:p.Gly720Arg
ENST00000438045.5:c.1363G>C	ENSP00000410438.1:p.Gly455Arg
ENST00000484913.5:n.2368G>C
ENST00000496092.1:n.127G>C
ENST00000496420.5:n.2005G>C
NM_000466.2:c.2329G>C	NP_000457.1:p.Gly777Arg
NM_001282677.1:c.2158G>C	NP_001269606.1:p.Gly720Arg
NM_001282678.1:c.1705G>C	NP_001269607.1:p.Gly569Arg
XM_005250433.3:c.580G>C	XP_005250490.1:p.Gly194Arg
XR_242246.3:n.2425G>C
XM_017012319.2:c.580G>C	XP_016867808.1:p.Gly194Arg
XR_001744808.2:n.1356G>C
XR_242246.5:n.2376G>C
NM_000466.3:c.2329G>C MANE Select	NP_000457.1:p.Gly777Arg
NM_001282677.2:c.2158G>C	NP_001269606.1:p.Gly720Arg
NM_001282678.2:c.1705G>C	NP_001269607.1:p.Gly569Arg