Canonical Allele Identifier: CA2559670491

Gene: PEX1

Linked Data

• gnomAD v4: 7-92518405-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518405G>T , CM000669.2:g.92518405G>T	GRCh38
NC_000007.13:g.92147719G>T , CM000669.1:g.92147719G>T	GRCh37
NC_000007.12:g.91985655G>T	NCBI36
NG_008341.1:g.15127C>A
NG_008341.2:g.15127C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.358-150C>A MANE Select	ENSP00000248633.4:n.358-150C>A
ENST00000248633.8:c.358-150C>A	ENSP00000248633.4:n.358-150C>A
ENST00000428214.5:c.358-150C>A	ENSP00000394413.1:n.358-150C>A
ENST00000438045.5:c.273+3697C>A	ENSP00000410438.1:n.273+3697C>A
ENST00000484913.5:n.397-150C>A
NM_000466.2:c.358-150C>A	NP_000457.1:n.358-150C>A
NM_001282677.1:c.358-150C>A	NP_001269606.1:n.358-150C>A
NM_001282678.1:c.-267-150C>A	NP_001269607.1:n.-267-150C>A
XR_242246.3:n.454-150C>A
XR_242246.5:n.405-150C>A
NM_000466.3:c.358-150C>A MANE Select	NP_000457.1:n.358-150C>A
NM_001282677.2:c.358-150C>A	NP_001269606.1:n.358-150C>A
NM_001282678.2:c.-267-150C>A	NP_001269607.1:n.-267-150C>A