Canonical Allele Identifier: CA2683718226

Gene: PEX1

Linked Data

• gnomAD v4: 7-92499563-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499563A>C , CM000669.2:g.92499563A>C	GRCh38
NC_000007.13:g.92128877A>C , CM000669.1:g.92128877A>C	GRCh37
NC_000007.12:g.91966813A>C	NCBI36
NG_008341.1:g.33969T>G
NG_008341.2:g.33969T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2718+141T>G MANE Select	ENSP00000248633.4:n.2718+141T>G
ENST00000248633.8:c.2718+141T>G	ENSP00000248633.4:n.2718+141T>G
ENST00000428214.5:c.2547+141T>G	ENSP00000394413.1:n.2547+141T>G
ENST00000438045.5:c.1752+141T>G	ENSP00000410438.1:n.1752+141T>G
ENST00000484913.5:n.2757+141T>G
ENST00000496420.5:n.2610+141T>G
NM_000466.2:c.2718+141T>G	NP_000457.1:n.2718+141T>G
NM_001282677.1:c.2547+141T>G	NP_001269606.1:n.2547+141T>G
NM_001282678.1:c.2094+141T>G	NP_001269607.1:n.2094+141T>G
XM_005250433.3:c.969+141T>G	XP_005250490.1:n.969+141T>G
XR_242246.3:n.2814+141T>G
XM_017012319.2:c.969+141T>G	XP_016867808.1:n.969+141T>G
XR_001744808.2:n.1745+141T>G
XR_242246.5:n.2765+141T>G
NM_000466.3:c.2718+141T>G MANE Select	NP_000457.1:n.2718+141T>G
NM_001282677.2:c.2547+141T>G	NP_001269606.1:n.2547+141T>G
NM_001282678.2:c.2094+141T>G	NP_001269607.1:n.2094+141T>G