Canonical Allele Identifier: CA1104476986

Gene: PEX1

Linked Data

• dbSNP Id: rs1792882653
• gnomAD v3: 7-92518063-A-G
• gnomAD v4: 7-92518063-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518063A>G , CM000669.2:g.92518063A>G	GRCh38
NC_000007.13:g.92147377A>G , CM000669.1:g.92147377A>G	GRCh37
NC_000007.12:g.91985313A>G	NCBI36
NG_008341.1:g.15469T>C
NG_008341.2:g.15469T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.473-21T>C MANE Select	ENSP00000248633.4:n.473-21T>C
ENST00000248633.8:c.473-21T>C	ENSP00000248633.4:n.473-21T>C
ENST00000428214.5:c.473-21T>C	ENSP00000394413.1:n.473-21T>C
ENST00000438045.5:c.273+4039T>C	ENSP00000410438.1:n.273+4039T>C
ENST00000484913.5:n.512-21T>C
NM_000466.2:c.473-21T>C	NP_000457.1:n.473-21T>C
NM_001282677.1:c.473-21T>C	NP_001269606.1:n.473-21T>C
NM_001282678.1:c.-152-21T>C	NP_001269607.1:n.-152-21T>C
XR_242246.3:n.569-21T>C
XR_242246.5:n.520-21T>C
NM_000466.3:c.473-21T>C MANE Select	NP_000457.1:n.473-21T>C
NM_001282677.2:c.473-21T>C	NP_001269606.1:n.473-21T>C
NM_001282678.2:c.-152-21T>C	NP_001269607.1:n.-152-21T>C