Canonical Allele Identifier: CA4341524

Gene: PEX1

Linked Data

• ClinVar Variation Id: 757343
• ClinVar RCV Id: RCV000934954
• dbSNP Id: rs559305030
• ExAC: 7:92146932 G / A
• gnomAD v2: 7-92146932-G-A
• gnomAD v3: 7-92517618-G-A
• gnomAD v4: 7-92517618-G-A
• COSMIC: COSM1452842
• MyVariant Identifiers: chr7:g.92146932G>A (hg19) ; chr7:g.92517618G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517618G>A , CM000669.2:g.92517618G>A	GRCh38
NC_000007.13:g.92146932G>A , CM000669.1:g.92146932G>A	GRCh37
NC_000007.12:g.91984868G>A	NCBI36
NG_008341.1:g.15914C>T
NG_008341.2:g.15914C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.897C>T MANE Select	ENSP00000248633.4:p.Asn299=
ENST00000248633.8:c.897C>T	ENSP00000248633.4:p.Asn299=
ENST00000428214.5:c.897C>T	ENSP00000394413.1:p.Asn299=
ENST00000438045.5:c.274-3651C>T	ENSP00000410438.1:n.274-3651C>T
ENST00000484913.5:n.936C>T
NM_000466.2:c.897C>T	NP_000457.1:p.Asn299=
NM_001282677.1:c.897C>T	NP_001269606.1:p.Asn299=
NM_001282678.1:c.273C>T	NP_001269607.1:p.Asn91=
XR_242246.3:n.993C>T
XM_017012319.2:c.-770C>T	XP_016867808.1:n.-770C>T
XR_001744808.2:n.7C>T
XR_242246.5:n.944C>T
NM_000466.3:c.897C>T MANE Select	NP_000457.1:p.Asn299=
NM_001282677.2:c.897C>T	NP_001269606.1:p.Asn299=
NM_001282678.2:c.273C>T	NP_001269607.1:p.Asn91=