Canonical Allele Identifier: CA2739265488

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2862109
• ClinVar RCV Id: RCV003759303

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506357T>G , CM000669.2:g.92506357T>G	GRCh38
NC_000007.13:g.92135671T>G , CM000669.1:g.92135671T>G	GRCh37
NC_000007.12:g.91973607T>G	NCBI36
NG_008341.1:g.27175A>C
NG_008341.2:g.27175A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1804-13A>C MANE Select	ENSP00000248633.4:n.1804-13A>C
ENST00000248633.8:c.1804-13A>C	ENSP00000248633.4:n.1804-13A>C
ENST00000422866.1:c.622-13A>C
ENST00000428214.5:c.1804-13A>C	ENSP00000394413.1:n.1804-13A>C
ENST00000438045.5:c.838-13A>C	ENSP00000410438.1:n.838-13A>C
ENST00000484913.5:n.1843-13A>C
ENST00000496420.5:n.1467A>C
NM_000466.2:c.1804-13A>C	NP_000457.1:n.1804-13A>C
NM_001282677.1:c.1804-13A>C	NP_001269606.1:n.1804-13A>C
NM_001282678.1:c.1180-13A>C	NP_001269607.1:n.1180-13A>C
XM_005250433.3:c.55-13A>C	XP_005250490.1:n.55-13A>C
XR_242246.3:n.1900-13A>C
XM_017012319.2:c.55-13A>C	XP_016867808.1:n.55-13A>C
XR_001744808.2:n.831-13A>C
XR_242246.5:n.1851-13A>C
NM_000466.3:c.1804-13A>C MANE Select	NP_000457.1:n.1804-13A>C
NM_001282677.2:c.1804-13A>C	NP_001269606.1:n.1804-13A>C
NM_001282678.2:c.1180-13A>C	NP_001269607.1:n.1180-13A>C