Canonical Allele Identifier: CA2578937992

Gene: PEX1

Linked Data

• gnomAD v4: 7-92504648-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504648C>G , CM000669.2:g.92504648C>G	GRCh38
NC_000007.13:g.92133962C>G , CM000669.1:g.92133962C>G	GRCh37
NC_000007.12:g.91971898C>G	NCBI36
NG_008341.1:g.28884G>C
NG_008341.2:g.28884G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2071+84G>C MANE Select	ENSP00000248633.4:n.2071+84G>C
ENST00000248633.8:c.2071+84G>C	ENSP00000248633.4:n.2071+84G>C
ENST00000428214.5:c.1901-1453G>C	ENSP00000394413.1:n.1901-1453G>C
ENST00000438045.5:c.1105+84G>C	ENSP00000410438.1:n.1105+84G>C
ENST00000484913.5:n.2110+84G>C
ENST00000496420.5:n.1747+84G>C
NM_000466.2:c.2071+84G>C	NP_000457.1:n.2071+84G>C
NM_001282677.1:c.1901-1453G>C	NP_001269606.1:n.1901-1453G>C
NM_001282678.1:c.1447+84G>C	NP_001269607.1:n.1447+84G>C
XM_005250433.3:c.322+84G>C	XP_005250490.1:n.322+84G>C
XR_242246.3:n.2167+84G>C
XM_017012319.2:c.322+84G>C	XP_016867808.1:n.322+84G>C
XR_001744808.2:n.1098+84G>C
XR_242246.5:n.2118+84G>C
NM_000466.3:c.2071+84G>C MANE Select	NP_000457.1:n.2071+84G>C
NM_001282677.2:c.1901-1453G>C	NP_001269606.1:n.1901-1453G>C
NM_001282678.2:c.1447+84G>C	NP_001269607.1:n.1447+84G>C