Canonical Allele Identifier: CA368202423

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1355725
• ClinVar RCV Id: RCV001867069
• dbSNP Id: rs1346290048
• gnomAD v2: 7-92147527-T-C
• gnomAD v4: 7-92518213-T-C
• MyVariant Identifiers: chr7:g.92147527T>C (hg19) ; chr7:g.92518213T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92518213T>C , CM000669.2:g.92518213T>C	GRCh38
NC_000007.13:g.92147527T>C , CM000669.1:g.92147527T>C	GRCh37
NC_000007.12:g.91985463T>C	NCBI36
NG_008341.1:g.15319A>G
NG_008341.2:g.15319A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.400A>G MANE Select	ENSP00000248633.4:p.Ile134Val
ENST00000248633.8:c.400A>G	ENSP00000248633.4:p.Ile134Val
ENST00000428214.5:c.400A>G	ENSP00000394413.1:p.Ile134Val
ENST00000438045.5:c.273+3889A>G	ENSP00000410438.1:n.273+3889A>G
ENST00000484913.5:n.439A>G
NM_000466.2:c.400A>G	NP_000457.1:p.Ile134Val
NM_001282677.1:c.400A>G	NP_001269606.1:p.Ile134Val
NM_001282678.1:c.-225A>G	NP_001269607.1:n.-225A>G
XR_242246.3:n.496A>G
XR_242246.5:n.447A>G
NM_000466.3:c.400A>G MANE Select	NP_000457.1:p.Ile134Val
NM_001282677.2:c.400A>G	NP_001269606.1:p.Ile134Val
NM_001282678.2:c.-225A>G	NP_001269607.1:n.-225A>G