Canonical Allele Identifier: CA161974140

Gene: PEX1

Linked Data

• ClinVar Variation Id: 810635
• ClinVar RCV Id: RCV001004522 ; RCV001030786 ; RCV001784534 ; RCV001869414
• dbSNP Id: rs201415996
• gnomAD v4: 7-92518210-G-A
• COSMIC: COSM288839
• MyVariant Identifiers: chr7:g.92147524G>A (hg19) ; chr7:g.92518210G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518210G>A , CM000669.2:g.92518210G>A	GRCh38
NC_000007.13:g.92147524G>A , CM000669.1:g.92147524G>A	GRCh37
NC_000007.12:g.91985460G>A	NCBI36
NG_008341.1:g.15322C>T
NG_008341.2:g.15322C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.403C>T MANE Select	ENSP00000248633.4:p.Arg135Ter
ENST00000248633.8:c.403C>T	ENSP00000248633.4:p.Arg135Ter
ENST00000428214.5:c.403C>T	ENSP00000394413.1:p.Arg135Ter
ENST00000438045.5:c.273+3892C>T	ENSP00000410438.1:n.273+3892C>T
ENST00000484913.5:n.442C>T
NM_000466.2:c.403C>T	NP_000457.1:p.Arg135Ter
NM_001282677.1:c.403C>T	NP_001269606.1:p.Arg135Ter
NM_001282678.1:c.-222C>T	NP_001269607.1:n.-222C>T
XR_242246.3:n.499C>T
XR_242246.5:n.450C>T
NM_000466.3:c.403C>T MANE Select	NP_000457.1:p.Arg135Ter
NM_001282677.2:c.403C>T	NP_001269606.1:p.Arg135Ter
NM_001282678.2:c.-222C>T	NP_001269607.1:n.-222C>T