Canonical Allele Identifier: CA146656

Gene: PEX1

Linked Data

• ClinVar Variation Id: 93105
• ClinVar RCV Id: RCV000078920 ; RCV000380113 ; RCV000676106 ; RCV001522401 ; RCV001787878 ; RCV001787879
• dbSNP Id: rs10278857
• ExAC: 7:92131289 G / T
• gnomAD v2: 7-92131289-G-T
• gnomAD v3: 7-92501975-G-T
• gnomAD v4: 7-92501975-G-T
• MyVariant Identifiers: chr7:g.92131289G>T (hg19) ; chr7:g.92501975G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501975G>T , CM000669.2:g.92501975G>T	GRCh38
NC_000007.13:g.92131289G>T , CM000669.1:g.92131289G>T	GRCh37
NC_000007.12:g.91969225G>T	NCBI36
NG_008341.1:g.31557C>A
NG_008341.2:g.31557C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2331C>A MANE Select	ENSP00000248633.4:p.Gly777=
ENST00000248633.8:c.2331C>A	ENSP00000248633.4:p.Gly777=
ENST00000428214.5:c.2160C>A	ENSP00000394413.1:p.Gly720=
ENST00000438045.5:c.1365C>A	ENSP00000410438.1:p.Gly455=
ENST00000484913.5:n.2370C>A
ENST00000496092.1:n.129C>A
ENST00000496420.5:n.2007C>A
NM_000466.2:c.2331C>A	NP_000457.1:p.Gly777=
NM_001282677.1:c.2160C>A	NP_001269606.1:p.Gly720=
NM_001282678.1:c.1707C>A	NP_001269607.1:p.Gly569=
XM_005250433.3:c.582C>A	XP_005250490.1:p.Gly194=
XR_242246.3:n.2427C>A
XM_017012319.2:c.582C>A	XP_016867808.1:p.Gly194=
XR_001744808.2:n.1358C>A
XR_242246.5:n.2378C>A
NM_000466.3:c.2331C>A MANE Select	NP_000457.1:p.Gly777=
NM_001282677.2:c.2160C>A	NP_001269606.1:p.Gly720=
NM_001282678.2:c.1707C>A	NP_001269607.1:p.Gly569=