Canonical Allele Identifier: CA368173227

Gene: PEX1

Linked Data

• ClinVar Variation Id: 1961389
• ClinVar RCV Id: RCV002734840
• MyVariant Identifiers: chr7:g.92129035T>G (hg19) ; chr7:g.92499721T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92499721T>G , CM000669.2:g.92499721T>G	GRCh38
NC_000007.13:g.92129035T>G , CM000669.1:g.92129035T>G	GRCh37
NC_000007.12:g.91966971T>G	NCBI36
NG_008341.1:g.33811A>C
NG_008341.2:g.33811A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2701A>C MANE Select	ENSP00000248633.4:p.Asn901His
ENST00000248633.8:c.2701A>C	ENSP00000248633.4:p.Asn901His
ENST00000428214.5:c.2530A>C	ENSP00000394413.1:p.Asn844His
ENST00000438045.5:c.1735A>C	ENSP00000410438.1:p.Asn579His
ENST00000484913.5:n.2740A>C
ENST00000496420.5:n.2593A>C
NM_000466.2:c.2701A>C	NP_000457.1:p.Asn901His
NM_001282677.1:c.2530A>C	NP_001269606.1:p.Asn844His
NM_001282678.1:c.2077A>C	NP_001269607.1:p.Asn693His
XM_005250433.3:c.952A>C	XP_005250490.1:p.Asn318His
XR_242246.3:n.2797A>C
XM_017012319.2:c.952A>C	XP_016867808.1:p.Asn318His
XR_001744808.2:n.1728A>C
XR_242246.5:n.2748A>C
NM_000466.3:c.2701A>C MANE Select	NP_000457.1:p.Asn901His
NM_001282677.2:c.2530A>C	NP_001269606.1:p.Asn844His
NM_001282678.2:c.2077A>C	NP_001269607.1:p.Asn693His