Canonical Allele Identifier: CA2500423993

Gene: PEX1

Linked Data

• gnomAD v4: 7-92518101-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518101T>C , CM000669.2:g.92518101T>C	GRCh38
NC_000007.13:g.92147415T>C , CM000669.1:g.92147415T>C	GRCh37
NC_000007.12:g.91985351T>C	NCBI36
NG_008341.1:g.15431A>G
NG_008341.2:g.15431A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.472+40A>G MANE Select	ENSP00000248633.4:n.472+40A>G
ENST00000248633.8:c.472+40A>G	ENSP00000248633.4:n.472+40A>G
ENST00000428214.5:c.472+40A>G	ENSP00000394413.1:n.472+40A>G
ENST00000438045.5:c.273+4001A>G	ENSP00000410438.1:n.273+4001A>G
ENST00000484913.5:n.511+40A>G
NM_000466.2:c.472+40A>G	NP_000457.1:n.472+40A>G
NM_001282677.1:c.472+40A>G	NP_001269606.1:n.472+40A>G
NM_001282678.1:c.-153+40A>G	NP_001269607.1:n.-153+40A>G
XR_242246.3:n.568+40A>G
XR_242246.5:n.519+40A>G
NM_000466.3:c.472+40A>G MANE Select	NP_000457.1:n.472+40A>G
NM_001282677.2:c.472+40A>G	NP_001269606.1:n.472+40A>G
NM_001282678.2:c.-153+40A>G	NP_001269607.1:n.-153+40A>G