Canonical Allele Identifier: CA456483412

Gene: PEX1

Linked Data

• dbSNP Id: rs1792108665
• MyVariant Identifiers: chr7:g.92134194T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504880T>C , CM000669.2:g.92504880T>C	GRCh38
NC_000007.13:g.92134194T>C , CM000669.1:g.92134194T>C	GRCh37
NC_000007.12:g.91972130T>C	NCBI36
NG_008341.1:g.28652A>G
NG_008341.2:g.28652A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1923A>G MANE Select	ENSP00000248633.4:p.Gln641=
ENST00000248633.8:c.1923A>G	ENSP00000248633.4:p.Gln641=
ENST00000428214.5:c.1900+1368A>G	ENSP00000394413.1:n.1900+1368A>G
ENST00000438045.5:c.957A>G	ENSP00000410438.1:p.Gln319=
ENST00000484913.5:n.1962A>G
ENST00000496420.5:n.1599A>G
NM_000466.2:c.1923A>G	NP_000457.1:p.Gln641=
NM_001282677.1:c.1900+1368A>G	NP_001269606.1:n.1900+1368A>G
NM_001282678.1:c.1299A>G	NP_001269607.1:p.Gln433=
XM_005250433.3:c.174A>G	XP_005250490.1:p.Gln58=
XR_242246.3:n.2019A>G
XM_017012319.2:c.174A>G	XP_016867808.1:p.Gln58=
XR_001744808.2:n.950A>G
XR_242246.5:n.1970A>G
NM_000466.3:c.1923A>G MANE Select	NP_000457.1:p.Gln641=
NM_001282677.2:c.1900+1368A>G	NP_001269606.1:n.1900+1368A>G
NM_001282678.2:c.1299A>G	NP_001269607.1:p.Gln433=