Canonical Allele Identifier: CA456483501

Gene: PEX1

Linked Data

• MyVariant Identifiers: chr7:g.92135635G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506321G>C , CM000669.2:g.92506321G>C	GRCh38
NC_000007.13:g.92135635G>C , CM000669.1:g.92135635G>C	GRCh37
NC_000007.12:g.91973571G>C	NCBI36
NG_008341.1:g.27211C>G
NG_008341.2:g.27211C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.1827C>G MANE Select	ENSP00000248633.4:p.Ala609=
ENST00000248633.8:c.1827C>G	ENSP00000248633.4:p.Ala609=
ENST00000422866.1:c.645C>G
ENST00000428214.5:c.1827C>G	ENSP00000394413.1:p.Ala609=
ENST00000438045.5:c.861C>G	ENSP00000410438.1:p.Ala287=
ENST00000484913.5:n.1866C>G
ENST00000496420.5:n.1503C>G
NM_000466.2:c.1827C>G	NP_000457.1:p.Ala609=
NM_001282677.1:c.1827C>G	NP_001269606.1:p.Ala609=
NM_001282678.1:c.1203C>G	NP_001269607.1:p.Ala401=
XM_005250433.3:c.78C>G	XP_005250490.1:p.Ala26=
XR_242246.3:n.1923C>G
XM_017012319.2:c.78C>G	XP_016867808.1:p.Ala26=
XR_001744808.2:n.854C>G
XR_242246.5:n.1874C>G
NM_000466.3:c.1827C>G MANE Select	NP_000457.1:p.Ala609=
NM_001282677.2:c.1827C>G	NP_001269606.1:p.Ala609=
NM_001282678.2:c.1203C>G	NP_001269607.1:p.Ala401=