Canonical Allele Identifier: CA368183501

Gene: PEX1

Linked Data

• dbSNP Id: rs1792103131
• MyVariant Identifiers: chr7:g.92134127G>C (hg19) ; chr7:g.92504813G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92504813G>C , CM000669.2:g.92504813G>C	GRCh38
NC_000007.13:g.92134127G>C , CM000669.1:g.92134127G>C	GRCh37
NC_000007.12:g.91972063G>C	NCBI36
NG_008341.1:g.28719C>G
NG_008341.2:g.28719C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1990C>G MANE Select	ENSP00000248633.4:p.Leu664Val
ENST00000248633.8:c.1990C>G	ENSP00000248633.4:p.Leu664Val
ENST00000428214.5:c.1900+1435C>G	ENSP00000394413.1:n.1900+1435C>G
ENST00000438045.5:c.1024C>G	ENSP00000410438.1:p.Leu342Val
ENST00000484913.5:n.2029C>G
ENST00000496420.5:n.1666C>G
NM_000466.2:c.1990C>G	NP_000457.1:p.Leu664Val
NM_001282677.1:c.1900+1435C>G	NP_001269606.1:n.1900+1435C>G
NM_001282678.1:c.1366C>G	NP_001269607.1:p.Leu456Val
XM_005250433.3:c.241C>G	XP_005250490.1:p.Leu81Val
XR_242246.3:n.2086C>G
XM_017012319.2:c.241C>G	XP_016867808.1:p.Leu81Val
XR_001744808.2:n.1017C>G
XR_242246.5:n.2037C>G
NM_000466.3:c.1990C>G MANE Select	NP_000457.1:p.Leu664Val
NM_001282677.2:c.1900+1435C>G	NP_001269606.1:n.1900+1435C>G
NM_001282678.2:c.1366C>G	NP_001269607.1:p.Leu456Val