Canonical Allele Identifier: CA456483722

Gene: PEX1

Linked Data

• gnomAD v4: 7-92510983-A-G
• MyVariant Identifiers: chr7:g.92140297A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92510983A>G , CM000669.2:g.92510983A>G	GRCh38
NC_000007.13:g.92140297A>G , CM000669.1:g.92140297A>G	GRCh37
NC_000007.12:g.91978233A>G	NCBI36
NG_008341.1:g.22549T>C
NG_008341.2:g.22549T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1548T>C MANE Select	ENSP00000248633.4:p.Phe516=
ENST00000248633.8:c.1548T>C	ENSP00000248633.4:p.Phe516=
ENST00000422866.1:c.449T>C
ENST00000428214.5:c.1548T>C	ENSP00000394413.1:p.Phe516=
ENST00000438045.5:c.582T>C	ENSP00000410438.1:p.Phe194=
ENST00000476923.1:n.309T>C
ENST00000484913.5:n.1587T>C
NM_000466.2:c.1548T>C	NP_000457.1:p.Phe516=
NM_001282677.1:c.1548T>C	NP_001269606.1:p.Phe516=
NM_001282678.1:c.924T>C	NP_001269607.1:p.Phe308=
XM_005250433.3:c.-119T>C	XP_005250490.1:n.-119T>C
XR_242246.3:n.1644T>C
XM_017012319.2:c.-119T>C	XP_016867808.1:n.-119T>C
XR_001744808.2:n.658T>C
XR_242246.5:n.1595T>C
NM_000466.3:c.1548T>C MANE Select	NP_000457.1:p.Phe516=
NM_001282677.2:c.1548T>C	NP_001269606.1:p.Phe516=
NM_001282678.2:c.924T>C	NP_001269607.1:p.Phe308=