Canonical Allele Identifier: CA1725948386

Gene: PEX1

Linked Data

• dbSNP Id: rs1374078660
• gnomAD v4: 7-92518104-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518104T>C , CM000669.2:g.92518104T>C	GRCh38
NC_000007.13:g.92147418T>C , CM000669.1:g.92147418T>C	GRCh37
NC_000007.12:g.91985354T>C	NCBI36
NG_008341.1:g.15428A>G
NG_008341.2:g.15428A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.472+37A>G MANE Select	ENSP00000248633.4:n.472+37A>G
ENST00000248633.8:c.472+37A>G	ENSP00000248633.4:n.472+37A>G
ENST00000428214.5:c.472+37A>G	ENSP00000394413.1:n.472+37A>G
ENST00000438045.5:c.273+3998A>G	ENSP00000410438.1:n.273+3998A>G
ENST00000484913.5:n.511+37A>G
NM_000466.2:c.472+37A>G	NP_000457.1:n.472+37A>G
NM_001282677.1:c.472+37A>G	NP_001269606.1:n.472+37A>G
NM_001282678.1:c.-153+37A>G	NP_001269607.1:n.-153+37A>G
XR_242246.3:n.568+37A>G
XR_242246.5:n.519+37A>G
NM_000466.3:c.472+37A>G MANE Select	NP_000457.1:n.472+37A>G
NM_001282677.2:c.472+37A>G	NP_001269606.1:n.472+37A>G
NM_001282678.2:c.-153+37A>G	NP_001269607.1:n.-153+37A>G