Canonical Allele Identifier: CA368183092

Gene: PEX1

Linked Data

• dbSNP Id: rs1433370730
• gnomAD v2: 7-92134084-T-C
• gnomAD v4: 7-92504770-T-C
• MyVariant Identifiers: chr7:g.92134084T>C (hg19) ; chr7:g.92504770T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504770T>C , CM000669.2:g.92504770T>C	GRCh38
NC_000007.13:g.92134084T>C , CM000669.1:g.92134084T>C	GRCh37
NC_000007.12:g.91972020T>C	NCBI36
NG_008341.1:g.28762A>G
NG_008341.2:g.28762A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2033A>G MANE Select	ENSP00000248633.4:p.His678Arg
ENST00000248633.8:c.2033A>G	ENSP00000248633.4:p.His678Arg
ENST00000428214.5:c.1900+1478A>G	ENSP00000394413.1:n.1900+1478A>G
ENST00000438045.5:c.1067A>G	ENSP00000410438.1:p.His356Arg
ENST00000484913.5:n.2072A>G
ENST00000496420.5:n.1709A>G
NM_000466.2:c.2033A>G	NP_000457.1:p.His678Arg
NM_001282677.1:c.1900+1478A>G	NP_001269606.1:n.1900+1478A>G
NM_001282678.1:c.1409A>G	NP_001269607.1:p.His470Arg
XM_005250433.3:c.284A>G	XP_005250490.1:p.His95Arg
XR_242246.3:n.2129A>G
XM_017012319.2:c.284A>G	XP_016867808.1:p.His95Arg
XR_001744808.2:n.1060A>G
XR_242246.5:n.2080A>G
NM_000466.3:c.2033A>G MANE Select	NP_000457.1:p.His678Arg
NM_001282677.2:c.1900+1478A>G	NP_001269606.1:n.1900+1478A>G
NM_001282678.2:c.1409A>G	NP_001269607.1:p.His470Arg