Canonical Allele Identifier: CA368178286

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1948859
• ClinVar RCV Id: RCV002668068
• MyVariant Identifiers: chr7:g.92131336T>G (hg19) ; chr7:g.92502022T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92502022T>G , CM000669.2:g.92502022T>G	GRCh38
NC_000007.13:g.92131336T>G , CM000669.1:g.92131336T>G	GRCh37
NC_000007.12:g.91969272T>G	NCBI36
NG_008341.1:g.31510A>C
NG_008341.2:g.31510A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2284A>C MANE Select	ENSP00000248633.4:p.Asn762His
ENST00000248633.8:c.2284A>C	ENSP00000248633.4:p.Asn762His
ENST00000428214.5:c.2113A>C	ENSP00000394413.1:p.Asn705His
ENST00000438045.5:c.1318A>C	ENSP00000410438.1:p.Asn440His
ENST00000484913.5:n.2323A>C
ENST00000496092.1:n.82A>C
ENST00000496420.5:n.1960A>C
NM_000466.2:c.2284A>C	NP_000457.1:p.Asn762His
NM_001282677.1:c.2113A>C	NP_001269606.1:p.Asn705His
NM_001282678.1:c.1660A>C	NP_001269607.1:p.Asn554His
XM_005250433.3:c.535A>C	XP_005250490.1:p.Asn179His
XR_242246.3:n.2380A>C
XM_017012319.2:c.535A>C	XP_016867808.1:p.Asn179His
XR_001744808.2:n.1311A>C
XR_242246.5:n.2331A>C
NM_000466.3:c.2284A>C MANE Select	NP_000457.1:p.Asn762His
NM_001282677.2:c.2113A>C	NP_001269606.1:p.Asn705His
NM_001282678.2:c.1660A>C	NP_001269607.1:p.Asn554His