Canonical Allele Identifier: CA368184285

Gene: PEX1

Linked Data

• ClinVar Variation Id: 2165378
• ClinVar RCV Id: RCV003089946
• dbSNP Id: rs1792110916
• gnomAD v4: 7-92504902-C-T
• MyVariant Identifiers: chr7:g.92134216C>T (hg19) ; chr7:g.92504902C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504902C>T , CM000669.2:g.92504902C>T	GRCh38
NC_000007.13:g.92134216C>T , CM000669.1:g.92134216C>T	GRCh37
NC_000007.12:g.91972152C>T	NCBI36
NG_008341.1:g.28630G>A
NG_008341.2:g.28630G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1901G>A MANE Select	ENSP00000248633.4:p.Gly634Glu
ENST00000248633.8:c.1901G>A	ENSP00000248633.4:p.Gly634Glu
ENST00000422866.1:c.719G>A
ENST00000428214.5:c.1900+1346G>A	ENSP00000394413.1:n.1900+1346G>A
ENST00000438045.5:c.935G>A	ENSP00000410438.1:p.Gly312Glu
ENST00000484913.5:n.1940G>A
ENST00000496420.5:n.1577G>A
NM_000466.2:c.1901G>A	NP_000457.1:p.Gly634Glu
NM_001282677.1:c.1900+1346G>A	NP_001269606.1:n.1900+1346G>A
NM_001282678.1:c.1277G>A	NP_001269607.1:p.Gly426Glu
XM_005250433.3:c.152G>A	XP_005250490.1:p.Gly51Glu
XR_242246.3:n.1997G>A
XM_017012319.2:c.152G>A	XP_016867808.1:p.Gly51Glu
XR_001744808.2:n.928G>A
XR_242246.5:n.1948G>A
NM_000466.3:c.1901G>A MANE Select	NP_000457.1:p.Gly634Glu
NM_001282677.2:c.1900+1346G>A	NP_001269606.1:n.1900+1346G>A
NM_001282678.2:c.1277G>A	NP_001269607.1:p.Gly426Glu