Canonical Allele Identifier: CA368199789

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92147033C>G (hg19) ; chr7:g.92517719C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517719C>G , CM000669.2:g.92517719C>G	GRCh38
NC_000007.13:g.92147033C>G , CM000669.1:g.92147033C>G	GRCh37
NC_000007.12:g.91984969C>G	NCBI36
NG_008341.1:g.15813G>C
NG_008341.2:g.15813G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.796G>C MANE Select	ENSP00000248633.4:p.Gly266Arg
ENST00000248633.8:c.796G>C	ENSP00000248633.4:p.Gly266Arg
ENST00000428214.5:c.796G>C	ENSP00000394413.1:p.Gly266Arg
ENST00000438045.5:c.274-3752G>C	ENSP00000410438.1:n.274-3752G>C
ENST00000484913.5:n.835G>C
NM_000466.2:c.796G>C	NP_000457.1:p.Gly266Arg
NM_001282677.1:c.796G>C	NP_001269606.1:p.Gly266Arg
NM_001282678.1:c.172G>C	NP_001269607.1:p.Gly58Arg
XR_242246.3:n.892G>C
XR_242246.5:n.843G>C
NM_000466.3:c.796G>C MANE Select	NP_000457.1:p.Gly266Arg
NM_001282677.2:c.796G>C	NP_001269606.1:p.Gly266Arg
NM_001282678.2:c.172G>C	NP_001269607.1:p.Gly58Arg