Canonical Allele Identifier: CA368174317

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92129146C>G (hg19) ; chr7:g.92499832C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499832C>G , CM000669.2:g.92499832C>G	GRCh38
NC_000007.13:g.92129146C>G , CM000669.1:g.92129146C>G	GRCh37
NC_000007.12:g.91967082C>G	NCBI36
NG_008341.1:g.33700G>C
NG_008341.2:g.33700G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2590G>C MANE Select	ENSP00000248633.4:p.Glu864Gln
ENST00000248633.8:c.2590G>C	ENSP00000248633.4:p.Glu864Gln
ENST00000428214.5:c.2419G>C	ENSP00000394413.1:p.Glu807Gln
ENST00000438045.5:c.1624G>C	ENSP00000410438.1:p.Glu542Gln
ENST00000484913.5:n.2629G>C
ENST00000496420.5:n.2482G>C
NM_000466.2:c.2590G>C	NP_000457.1:p.Glu864Gln
NM_001282677.1:c.2419G>C	NP_001269606.1:p.Glu807Gln
NM_001282678.1:c.1966G>C	NP_001269607.1:p.Glu656Gln
XM_005250433.3:c.841G>C	XP_005250490.1:p.Glu281Gln
XR_242246.3:n.2686G>C
XM_017012319.2:c.841G>C	XP_016867808.1:p.Glu281Gln
XR_001744808.2:n.1617G>C
XR_242246.5:n.2637G>C
NM_000466.3:c.2590G>C MANE Select	NP_000457.1:p.Glu864Gln
NM_001282677.2:c.2419G>C	NP_001269606.1:p.Glu807Gln
NM_001282678.2:c.1966G>C	NP_001269607.1:p.Glu656Gln