Canonical Allele Identifier: CA368201317

Gene: PEX1

Linked Data

• ClinVar Variation Id: 963759
• ClinVar RCV Id: RCV001237831
• dbSNP Id: rs199591182
• MyVariant Identifiers: chr7:g.92147284C>G (hg19) ; chr7:g.92517970C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517970C>G , CM000669.2:g.92517970C>G	GRCh38
NC_000007.13:g.92147284C>G , CM000669.1:g.92147284C>G	GRCh37
NC_000007.12:g.91985220C>G	NCBI36
NG_008341.1:g.15562G>C
NG_008341.2:g.15562G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.545G>C MANE Select	ENSP00000248633.4:p.Arg182Pro
ENST00000248633.8:c.545G>C	ENSP00000248633.4:p.Arg182Pro
ENST00000428214.5:c.545G>C	ENSP00000394413.1:p.Arg182Pro
ENST00000438045.5:c.274-4003G>C	ENSP00000410438.1:n.274-4003G>C
ENST00000484913.5:n.584G>C
NM_000466.2:c.545G>C	NP_000457.1:p.Arg182Pro
NM_001282677.1:c.545G>C	NP_001269606.1:p.Arg182Pro
NM_001282678.1:c.-80G>C	NP_001269607.1:n.-80G>C
XR_242246.3:n.641G>C
XR_242246.5:n.592G>C
NM_000466.3:c.545G>C MANE Select	NP_000457.1:p.Arg182Pro
NM_001282677.2:c.545G>C	NP_001269606.1:p.Arg182Pro
NM_001282678.2:c.-80G>C	NP_001269607.1:n.-80G>C