Canonical Allele Identifier: CA254194

Gene: PEX1

Linked Data

• ClinVar Variation Id: 7517
• ClinVar RCV Id: RCV000007949 ; RCV000763597 ; RCV001248383 ; RCV003473054 ; RCV003480024
• dbSNP Id: rs121434455
• gnomAD v3: 7-92504812-A-G
• gnomAD v4: 7-92504812-A-G
• MyVariant Identifiers: chr7:g.92134126A>G (hg19) ; chr7:g.92504812A>G (hg38)
• PubMed: PMID:9539740 ; PMID:11439091

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504812A>G , CM000669.2:g.92504812A>G	GRCh38
NC_000007.13:g.92134126A>G , CM000669.1:g.92134126A>G	GRCh37
NC_000007.12:g.91972062A>G	NCBI36
NG_008341.1:g.28720T>C
NG_008341.2:g.28720T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1991T>C MANE Select	ENSP00000248633.4:p.Leu664Pro
ENST00000248633.8:c.1991T>C	ENSP00000248633.4:p.Leu664Pro
ENST00000428214.5:c.1900+1436T>C	ENSP00000394413.1:n.1900+1436T>C
ENST00000438045.5:c.1025T>C	ENSP00000410438.1:p.Leu342Pro
ENST00000484913.5:n.2030T>C
ENST00000496420.5:n.1667T>C
NM_000466.2:c.1991T>C	NP_000457.1:p.Leu664Pro
NM_001282677.1:c.1900+1436T>C	NP_001269606.1:n.1900+1436T>C
NM_001282678.1:c.1367T>C	NP_001269607.1:p.Leu456Pro
XM_005250433.3:c.242T>C	XP_005250490.1:p.Leu81Pro
XR_242246.3:n.2087T>C
XM_017012319.2:c.242T>C	XP_016867808.1:p.Leu81Pro
XR_001744808.2:n.1018T>C
XR_242246.5:n.2038T>C
NM_000466.3:c.1991T>C MANE Select	NP_000457.1:p.Leu664Pro
NM_001282677.2:c.1900+1436T>C	NP_001269606.1:n.1900+1436T>C
NM_001282678.2:c.1367T>C	NP_001269607.1:p.Leu456Pro