Canonical Allele Identifier: CA368199419

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1043155
• ClinVar RCV Id: RCV001347225
• dbSNP Id: rs1792859390
• MyVariant Identifiers: chr7:g.92146977G>T (hg19) ; chr7:g.92517663G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92517663G>T , CM000669.2:g.92517663G>T	GRCh38
NC_000007.13:g.92146977G>T , CM000669.1:g.92146977G>T	GRCh37
NC_000007.12:g.91984913G>T	NCBI36
NG_008341.1:g.15869C>A
NG_008341.2:g.15869C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.852C>A MANE Select	ENSP00000248633.4:p.Asp284Glu
ENST00000248633.8:c.852C>A	ENSP00000248633.4:p.Asp284Glu
ENST00000428214.5:c.852C>A	ENSP00000394413.1:p.Asp284Glu
ENST00000438045.5:c.274-3696C>A	ENSP00000410438.1:n.274-3696C>A
ENST00000484913.5:n.891C>A
NM_000466.2:c.852C>A	NP_000457.1:p.Asp284Glu
NM_001282677.1:c.852C>A	NP_001269606.1:p.Asp284Glu
NM_001282678.1:c.228C>A	NP_001269607.1:p.Asp76Glu
XR_242246.3:n.948C>A
XR_242246.5:n.899C>A
NM_000466.3:c.852C>A MANE Select	NP_000457.1:p.Asp284Glu
NM_001282677.2:c.852C>A	NP_001269606.1:p.Asp284Glu
NM_001282678.2:c.228C>A	NP_001269607.1:p.Asp76Glu