Canonical Allele Identifier: CA368181080

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2129402
• ClinVar RCV Id: RCV003049971
• MyVariant Identifiers: chr7:g.92132366G>A (hg19) ; chr7:g.92503052G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503052G>A , CM000669.2:g.92503052G>A	GRCh38
NC_000007.13:g.92132366G>A , CM000669.1:g.92132366G>A	GRCh37
NC_000007.12:g.91970302G>A	NCBI36
NG_008341.1:g.30480C>T
NG_008341.2:g.30480C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2215C>T MANE Select	ENSP00000248633.4:p.Pro739Ser
ENST00000248633.8:c.2215C>T	ENSP00000248633.4:p.Pro739Ser
ENST00000428214.5:c.2044C>T	ENSP00000394413.1:p.Pro682Ser
ENST00000438045.5:c.1249C>T	ENSP00000410438.1:p.Pro417Ser
ENST00000484913.5:n.2254C>T
ENST00000496092.1:n.13C>T
ENST00000496420.5:n.1891C>T
NM_000466.2:c.2215C>T	NP_000457.1:p.Pro739Ser
NM_001282677.1:c.2044C>T	NP_001269606.1:p.Pro682Ser
NM_001282678.1:c.1591C>T	NP_001269607.1:p.Pro531Ser
XM_005250433.3:c.466C>T	XP_005250490.1:p.Pro156Ser
XR_242246.3:n.2311C>T
XM_017012319.2:c.466C>T	XP_016867808.1:p.Pro156Ser
XR_001744808.2:n.1242C>T
XR_242246.5:n.2262C>T
NM_000466.3:c.2215C>T MANE Select	NP_000457.1:p.Pro739Ser
NM_001282677.2:c.2044C>T	NP_001269606.1:p.Pro682Ser
NM_001282678.2:c.1591C>T	NP_001269607.1:p.Pro531Ser