Canonical Allele Identifier: CA368204697

Gene: PEX1

Linked Data

• dbSNP Id: rs1793075389
• gnomAD v3: 7-92522113-T-G
• gnomAD v4: 7-92522113-T-G
• MyVariant Identifiers: chr7:g.92151427T>G (hg19) ; chr7:g.92522113T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522113T>G , CM000669.2:g.92522113T>G	GRCh38
NC_000007.13:g.92151427T>G , CM000669.1:g.92151427T>G	GRCh37
NC_000007.12:g.91989363T>G	NCBI36
NG_008341.1:g.11419A>C
NG_008341.2:g.11419A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.262A>C MANE Select	ENSP00000248633.4:p.Asn88His
ENST00000248633.8:c.262A>C	ENSP00000248633.4:p.Asn88His
ENST00000428214.5:c.262A>C	ENSP00000394413.1:p.Asn88His
ENST00000438045.5:c.262A>C	ENSP00000410438.1:p.Asn88His
ENST00000484913.5:n.266A>C
NM_000466.2:c.262A>C	NP_000457.1:p.Asn88His
NM_001282677.1:c.262A>C	NP_001269606.1:p.Asn88His
NM_001282678.1:c.-398A>C	NP_001269607.1:n.-398A>C
XR_242246.3:n.358A>C
XR_242246.5:n.309A>C
NM_000466.3:c.262A>C MANE Select	NP_000457.1:p.Asn88His
NM_001282677.2:c.262A>C	NP_001269606.1:p.Asn88His
NM_001282678.2:c.-398A>C	NP_001269607.1:n.-398A>C