Canonical Allele Identifier: CA368198401

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92146781G>T (hg19) ; chr7:g.92517467G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517467G>T , CM000669.2:g.92517467G>T	GRCh38
NC_000007.13:g.92146781G>T , CM000669.1:g.92146781G>T	GRCh37
NC_000007.12:g.91984717G>T	NCBI36
NG_008341.1:g.16065C>A
NG_008341.2:g.16065C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1048C>A MANE Select	ENSP00000248633.4:p.Gln350Lys
ENST00000248633.8:c.1048C>A	ENSP00000248633.4:p.Gln350Lys
ENST00000428214.5:c.1048C>A	ENSP00000394413.1:p.Gln350Lys
ENST00000438045.5:c.274-3500C>A	ENSP00000410438.1:n.274-3500C>A
ENST00000484913.5:n.1087C>A
NM_000466.2:c.1048C>A	NP_000457.1:p.Gln350Lys
NM_001282677.1:c.1048C>A	NP_001269606.1:p.Gln350Lys
NM_001282678.1:c.424C>A	NP_001269607.1:p.Gln142Lys
XR_242246.3:n.1144C>A
XM_017012319.2:c.-619C>A	XP_016867808.1:n.-619C>A
XR_001744808.2:n.158C>A
XR_242246.5:n.1095C>A
NM_000466.3:c.1048C>A MANE Select	NP_000457.1:p.Gln350Lys
NM_001282677.2:c.1048C>A	NP_001269606.1:p.Gln350Lys
NM_001282678.2:c.424C>A	NP_001269607.1:p.Gln142Lys