Canonical Allele Identifier: CA2578938292

Gene: PEX1

Linked Data

• gnomAD v4: 7-92518966-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518966T>G , CM000669.2:g.92518966T>G	GRCh38
NC_000007.13:g.92148280T>G , CM000669.1:g.92148280T>G	GRCh37
NC_000007.12:g.91986216T>G	NCBI36
NG_008341.1:g.14566A>C
NG_008341.2:g.14566A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.357+29A>C MANE Select	ENSP00000248633.4:n.357+29A>C
ENST00000248633.8:c.357+29A>C	ENSP00000248633.4:n.357+29A>C
ENST00000428214.5:c.357+29A>C	ENSP00000394413.1:n.357+29A>C
ENST00000438045.5:c.273+3136A>C	ENSP00000410438.1:n.273+3136A>C
ENST00000484913.5:n.390A>C
NM_000466.2:c.357+29A>C	NP_000457.1:n.357+29A>C
NM_001282677.1:c.357+29A>C	NP_001269606.1:n.357+29A>C
NM_001282678.1:c.-274A>C	NP_001269607.1:n.-274A>C
XR_242246.3:n.453+29A>C
XR_242246.5:n.404+29A>C
NM_000466.3:c.357+29A>C MANE Select	NP_000457.1:n.357+29A>C
NM_001282677.2:c.357+29A>C	NP_001269606.1:n.357+29A>C
NM_001282678.2:c.-274A>C	NP_001269607.1:n.-274A>C