Canonical Allele Identifier: CA279184

Gene: PEX1

Linked Data

• ClinVar Variation Id: 217428
• ClinVar RCV Id: RCV000201290 ; RCV001075286 ; RCV001810437 ; RCV003417729 ; RCV002517304
• dbSNP Id: rs863225084
• gnomAD v2: 7-92132467-A-C
• gnomAD v4: 7-92503153-A-C
• MyVariant Identifiers: chr7:g.92132467A>C (hg19) ; chr7:g.92503153A>C (hg38)
• PubMed: PMID:26387595

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503153A>C , CM000669.2:g.92503153A>C	GRCh38
NC_000007.13:g.92132467A>C , CM000669.1:g.92132467A>C	GRCh37
NC_000007.12:g.91970403A>C	NCBI36
NG_008341.1:g.30379T>G
NG_008341.2:g.30379T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2114T>G MANE Select	ENSP00000248633.4:p.Leu705Trp
ENST00000248633.8:c.2114T>G	ENSP00000248633.4:p.Leu705Trp
ENST00000428214.5:c.1943T>G	ENSP00000394413.1:p.Leu648Trp
ENST00000438045.5:c.1148T>G	ENSP00000410438.1:p.Leu383Trp
ENST00000484913.5:n.2153T>G
ENST00000496420.5:n.1790T>G
NM_000466.2:c.2114T>G	NP_000457.1:p.Leu705Trp
NM_001282677.1:c.1943T>G	NP_001269606.1:p.Leu648Trp
NM_001282678.1:c.1490T>G	NP_001269607.1:p.Leu497Trp
XM_005250433.3:c.365T>G	XP_005250490.1:p.Leu122Trp
XR_242246.3:n.2210T>G
XM_017012319.2:c.365T>G	XP_016867808.1:p.Leu122Trp
XR_001744808.2:n.1141T>G
XR_242246.5:n.2161T>G
NM_000466.3:c.2114T>G MANE Select	NP_000457.1:p.Leu705Trp
NM_001282677.2:c.1943T>G	NP_001269606.1:p.Leu648Trp
NM_001282678.2:c.1490T>G	NP_001269607.1:p.Leu497Trp