Canonical Allele Identifier: CA368202885

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2677636
• ClinVar RCV Id: RCV003476770
• MyVariant Identifiers: chr7:g.92148317C>A (hg19) ; chr7:g.92519003C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519003C>A , CM000669.2:g.92519003C>A	GRCh38
NC_000007.13:g.92148317C>A , CM000669.1:g.92148317C>A	GRCh37
NC_000007.12:g.91986253C>A	NCBI36
NG_008341.1:g.14529G>T
NG_008341.2:g.14529G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.349G>T MANE Select	ENSP00000248633.4:p.Glu117Ter
ENST00000248633.8:c.349G>T	ENSP00000248633.4:p.Glu117Ter
ENST00000428214.5:c.349G>T	ENSP00000394413.1:p.Glu117Ter
ENST00000438045.5:c.273+3099G>T	ENSP00000410438.1:n.273+3099G>T
ENST00000484913.5:n.353G>T
NM_000466.2:c.349G>T	NP_000457.1:p.Glu117Ter
NM_001282677.1:c.349G>T	NP_001269606.1:p.Glu117Ter
NM_001282678.1:c.-311G>T	NP_001269607.1:n.-311G>T
XR_242246.3:n.445G>T
XR_242246.5:n.396G>T
NM_000466.3:c.349G>T MANE Select	NP_000457.1:p.Glu117Ter
NM_001282677.2:c.349G>T	NP_001269606.1:p.Glu117Ter
NM_001282678.2:c.-311G>T	NP_001269607.1:n.-311G>T