Canonical Allele Identifier: CA368178644

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1717375
• ClinVar RCV Id: RCV002297567
• dbSNP Id: rs773562757
• gnomAD v4: 7-92502057-C-T
• MyVariant Identifiers: chr7:g.92131371C>T (hg19) ; chr7:g.92502057C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502057C>T , CM000669.2:g.92502057C>T	GRCh38
NC_000007.13:g.92131371C>T , CM000669.1:g.92131371C>T	GRCh37
NC_000007.12:g.91969307C>T	NCBI36
NG_008341.1:g.31475G>A
NG_008341.2:g.31475G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2249G>A MANE Select	ENSP00000248633.4:p.Cys750Tyr
ENST00000248633.8:c.2249G>A	ENSP00000248633.4:p.Cys750Tyr
ENST00000428214.5:c.2078G>A	ENSP00000394413.1:p.Cys693Tyr
ENST00000438045.5:c.1283G>A	ENSP00000410438.1:p.Cys428Tyr
ENST00000484913.5:n.2288G>A
ENST00000496092.1:n.47G>A
ENST00000496420.5:n.1925G>A
NM_000466.2:c.2249G>A	NP_000457.1:p.Cys750Tyr
NM_001282677.1:c.2078G>A	NP_001269606.1:p.Cys693Tyr
NM_001282678.1:c.1625G>A	NP_001269607.1:p.Cys542Tyr
XM_005250433.3:c.500G>A	XP_005250490.1:p.Cys167Tyr
XR_242246.3:n.2345G>A
XM_017012319.2:c.500G>A	XP_016867808.1:p.Cys167Tyr
XR_001744808.2:n.1276G>A
XR_242246.5:n.2296G>A
NM_000466.3:c.2249G>A MANE Select	NP_000457.1:p.Cys750Tyr
NM_001282677.2:c.2078G>A	NP_001269606.1:p.Cys693Tyr
NM_001282678.2:c.1625G>A	NP_001269607.1:p.Cys542Tyr