Canonical Allele Identifier: CA368199576

Gene: PEX1

Linked Data

• gnomAD v4: 7-92517687-C-A
• MyVariant Identifiers: chr7:g.92147001C>A (hg19) ; chr7:g.92517687C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517687C>A , CM000669.2:g.92517687C>A	GRCh38
NC_000007.13:g.92147001C>A , CM000669.1:g.92147001C>A	GRCh37
NC_000007.12:g.91984937C>A	NCBI36
NG_008341.1:g.15845G>T
NG_008341.2:g.15845G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.828G>T MANE Select	ENSP00000248633.4:p.Met276Ile
ENST00000248633.8:c.828G>T	ENSP00000248633.4:p.Met276Ile
ENST00000428214.5:c.828G>T	ENSP00000394413.1:p.Met276Ile
ENST00000438045.5:c.274-3720G>T	ENSP00000410438.1:n.274-3720G>T
ENST00000484913.5:n.867G>T
NM_000466.2:c.828G>T	NP_000457.1:p.Met276Ile
NM_001282677.1:c.828G>T	NP_001269606.1:p.Met276Ile
NM_001282678.1:c.204G>T	NP_001269607.1:p.Met68Ile
XR_242246.3:n.924G>T
XR_242246.5:n.875G>T
NM_000466.3:c.828G>T MANE Select	NP_000457.1:p.Met276Ile
NM_001282677.2:c.828G>T	NP_001269606.1:p.Met276Ile
NM_001282678.2:c.204G>T	NP_001269607.1:p.Met68Ile