Canonical Allele Identifier: CA368199229

Gene: PEX1

Linked Data

• COSMIC: COSM4511890
• MyVariant Identifiers: chr7:g.92146946G>A (hg19) ; chr7:g.92517632G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517632G>A , CM000669.2:g.92517632G>A	GRCh38
NC_000007.13:g.92146946G>A , CM000669.1:g.92146946G>A	GRCh37
NC_000007.12:g.91984882G>A	NCBI36
NG_008341.1:g.15900C>T
NG_008341.2:g.15900C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.883C>T MANE Select	ENSP00000248633.4:p.Pro295Ser
ENST00000248633.8:c.883C>T	ENSP00000248633.4:p.Pro295Ser
ENST00000428214.5:c.883C>T	ENSP00000394413.1:p.Pro295Ser
ENST00000438045.5:c.274-3665C>T	ENSP00000410438.1:n.274-3665C>T
ENST00000484913.5:n.922C>T
NM_000466.2:c.883C>T	NP_000457.1:p.Pro295Ser
NM_001282677.1:c.883C>T	NP_001269606.1:p.Pro295Ser
NM_001282678.1:c.259C>T	NP_001269607.1:p.Pro87Ser
XR_242246.3:n.979C>T
XR_242246.5:n.930C>T
NM_000466.3:c.883C>T MANE Select	NP_000457.1:p.Pro295Ser
NM_001282677.2:c.883C>T	NP_001269606.1:p.Pro295Ser
NM_001282678.2:c.259C>T	NP_001269607.1:p.Pro87Ser