Canonical Allele Identifier: CA2683718735

Gene: PEX1

Linked Data

• gnomAD v4: 7-92504683-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504683G>T , CM000669.2:g.92504683G>T	GRCh38
NC_000007.13:g.92133997G>T , CM000669.1:g.92133997G>T	GRCh37
NC_000007.12:g.91971933G>T	NCBI36
NG_008341.1:g.28849C>A
NG_008341.2:g.28849C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2071+49C>A MANE Select	ENSP00000248633.4:n.2071+49C>A
ENST00000248633.8:c.2071+49C>A	ENSP00000248633.4:n.2071+49C>A
ENST00000428214.5:c.1901-1488C>A	ENSP00000394413.1:n.1901-1488C>A
ENST00000438045.5:c.1105+49C>A	ENSP00000410438.1:n.1105+49C>A
ENST00000484913.5:n.2110+49C>A
ENST00000496420.5:n.1747+49C>A
NM_000466.2:c.2071+49C>A	NP_000457.1:n.2071+49C>A
NM_001282677.1:c.1901-1488C>A	NP_001269606.1:n.1901-1488C>A
NM_001282678.1:c.1447+49C>A	NP_001269607.1:n.1447+49C>A
XM_005250433.3:c.322+49C>A	XP_005250490.1:n.322+49C>A
XR_242246.3:n.2167+49C>A
XM_017012319.2:c.322+49C>A	XP_016867808.1:n.322+49C>A
XR_001744808.2:n.1098+49C>A
XR_242246.5:n.2118+49C>A
NM_000466.3:c.2071+49C>A MANE Select	NP_000457.1:n.2071+49C>A
NM_001282677.2:c.1901-1488C>A	NP_001269606.1:n.1901-1488C>A
NM_001282678.2:c.1447+49C>A	NP_001269607.1:n.1447+49C>A