Canonical Allele Identifier: CA456623879

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1078447
• ClinVar RCV Id: RCV001393384
• dbSNP Id: rs1792856461
• gnomAD v3: 7-92517621-A-G
• gnomAD v4: 7-92517621-A-G
• MyVariant Identifiers: chr7:g.92146935A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517621A>G , CM000669.2:g.92517621A>G	GRCh38
NC_000007.13:g.92146935A>G , CM000669.1:g.92146935A>G	GRCh37
NC_000007.12:g.91984871A>G	NCBI36
NG_008341.1:g.15911T>C
NG_008341.2:g.15911T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.894T>C MANE Select	ENSP00000248633.4:p.Tyr298=
ENST00000248633.8:c.894T>C	ENSP00000248633.4:p.Tyr298=
ENST00000428214.5:c.894T>C	ENSP00000394413.1:p.Tyr298=
ENST00000438045.5:c.274-3654T>C	ENSP00000410438.1:n.274-3654T>C
ENST00000484913.5:n.933T>C
NM_000466.2:c.894T>C	NP_000457.1:p.Tyr298=
NM_001282677.1:c.894T>C	NP_001269606.1:p.Tyr298=
NM_001282678.1:c.270T>C	NP_001269607.1:p.Tyr90=
XR_242246.3:n.990T>C
XM_017012319.2:c.-773T>C	XP_016867808.1:n.-773T>C
XR_001744808.2:n.4T>C
XR_242246.5:n.941T>C
NM_000466.3:c.894T>C MANE Select	NP_000457.1:p.Tyr298=
NM_001282677.2:c.894T>C	NP_001269606.1:p.Tyr298=
NM_001282678.2:c.270T>C	NP_001269607.1:p.Tyr90=