Canonical Allele Identifier: CA368177155

Gene: PEX1

Linked Data

• dbSNP Id: rs2116148057
• MyVariant Identifiers: chr7:g.92131233A>T (hg19) ; chr7:g.92501919A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501919A>T , CM000669.2:g.92501919A>T	GRCh38
NC_000007.13:g.92131233A>T , CM000669.1:g.92131233A>T	GRCh37
NC_000007.12:g.91969169A>T	NCBI36
NG_008341.1:g.31613T>A
NG_008341.2:g.31613T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000248633.9:c.2387T>A MANE Select	ENSP00000248633.4:p.Leu796His
ENST00000248633.8:c.2387T>A	ENSP00000248633.4:p.Leu796His
ENST00000428214.5:c.2216T>A	ENSP00000394413.1:p.Leu739His
ENST00000438045.5:c.1421T>A	ENSP00000410438.1:p.Leu474His
ENST00000484913.5:n.2426T>A
ENST00000496092.1:n.185T>A
ENST00000496420.5:n.2063T>A
NM_000466.2:c.2387T>A	NP_000457.1:p.Leu796His
NM_001282677.1:c.2216T>A	NP_001269606.1:p.Leu739His
NM_001282678.1:c.1763T>A	NP_001269607.1:p.Leu588His
XM_005250433.3:c.638T>A	XP_005250490.1:p.Leu213His
XR_242246.3:n.2483T>A
XM_017012319.2:c.638T>A	XP_016867808.1:p.Leu213His
XR_001744808.2:n.1414T>A
XR_242246.5:n.2434T>A
NM_000466.3:c.2387T>A MANE Select	NP_000457.1:p.Leu796His
NM_001282677.2:c.2216T>A	NP_001269606.1:p.Leu739His
NM_001282678.2:c.1763T>A	NP_001269607.1:p.Leu588His