Canonical Allele Identifier: CA4341578

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1023864
• ClinVar RCV Id: RCV001323972
• dbSNP Id: rs771535312
• ExAC: 7:92147285 G / A
• gnomAD v2: 7-92147285-G-A
• gnomAD v3: 7-92517971-G-A
• gnomAD v4: 7-92517971-G-A
• COSMIC: COSM2864271
• MyVariant Identifiers: chr7:g.92147285G>A (hg19) ; chr7:g.92517971G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517971G>A , CM000669.2:g.92517971G>A	GRCh38
NC_000007.13:g.92147285G>A , CM000669.1:g.92147285G>A	GRCh37
NC_000007.12:g.91985221G>A	NCBI36
NG_008341.1:g.15561C>T
NG_008341.2:g.15561C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.544C>T MANE Select	ENSP00000248633.4:p.Arg182Cys
ENST00000248633.8:c.544C>T	ENSP00000248633.4:p.Arg182Cys
ENST00000428214.5:c.544C>T	ENSP00000394413.1:p.Arg182Cys
ENST00000438045.5:c.274-4004C>T	ENSP00000410438.1:n.274-4004C>T
ENST00000484913.5:n.583C>T
NM_000466.2:c.544C>T	NP_000457.1:p.Arg182Cys
NM_001282677.1:c.544C>T	NP_001269606.1:p.Arg182Cys
NM_001282678.1:c.-81C>T	NP_001269607.1:n.-81C>T
XR_242246.3:n.640C>T
XR_242246.5:n.591C>T
NM_000466.3:c.544C>T MANE Select	NP_000457.1:p.Arg182Cys
NM_001282677.2:c.544C>T	NP_001269606.1:p.Arg182Cys
NM_001282678.2:c.-81C>T	NP_001269607.1:n.-81C>T