Canonical Allele Identifier: CA1104490506

Gene: PEX1

Linked Data

• dbSNP Id: rs1791826593
• gnomAD v3: 7-92499648-A-G
• gnomAD v4: 7-92499648-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499648A>G , CM000669.2:g.92499648A>G	GRCh38
NC_000007.13:g.92128962A>G , CM000669.1:g.92128962A>G	GRCh37
NC_000007.12:g.91966898A>G	NCBI36
NG_008341.1:g.33884T>C
NG_008341.2:g.33884T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2718+56T>C MANE Select	ENSP00000248633.4:n.2718+56T>C
ENST00000248633.8:c.2718+56T>C	ENSP00000248633.4:n.2718+56T>C
ENST00000428214.5:c.2547+56T>C	ENSP00000394413.1:n.2547+56T>C
ENST00000438045.5:c.1752+56T>C	ENSP00000410438.1:n.1752+56T>C
ENST00000484913.5:n.2757+56T>C
ENST00000496420.5:n.2610+56T>C
NM_000466.2:c.2718+56T>C	NP_000457.1:n.2718+56T>C
NM_001282677.1:c.2547+56T>C	NP_001269606.1:n.2547+56T>C
NM_001282678.1:c.2094+56T>C	NP_001269607.1:n.2094+56T>C
XM_005250433.3:c.969+56T>C	XP_005250490.1:n.969+56T>C
XR_242246.3:n.2814+56T>C
XM_017012319.2:c.969+56T>C	XP_016867808.1:n.969+56T>C
XR_001744808.2:n.1745+56T>C
XR_242246.5:n.2765+56T>C
NM_000466.3:c.2718+56T>C MANE Select	NP_000457.1:n.2718+56T>C
NM_001282677.2:c.2547+56T>C	NP_001269606.1:n.2547+56T>C
NM_001282678.2:c.2094+56T>C	NP_001269607.1:n.2094+56T>C