Canonical Allele Identifier: CA368202961

Gene: PEX1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519014G>T , CM000669.2:g.92519014G>T	GRCh38
NC_000007.13:g.92148328G>T , CM000669.1:g.92148328G>T	GRCh37
NC_000007.12:g.91986264G>T	NCBI36
NG_008341.1:g.14518C>A
NG_008341.2:g.14518C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.338C>A MANE Select	ENSP00000248633.4:p.Ala113Glu
ENST00000248633.8:c.338C>A	ENSP00000248633.4:p.Ala113Glu
ENST00000428214.5:c.338C>A	ENSP00000394413.1:p.Ala113Glu
ENST00000438045.5:c.273+3088C>A	ENSP00000410438.1:n.273+3088C>A
ENST00000484913.5:n.342C>A
NM_000466.2:c.338C>A	NP_000457.1:p.Ala113Glu
NM_001282677.1:c.338C>A	NP_001269606.1:p.Ala113Glu
NM_001282678.1:c.-322C>A	NP_001269607.1:n.-322C>A
XR_242246.3:n.434C>A
XR_242246.5:n.385C>A
NM_000466.3:c.338C>A MANE Select	NP_000457.1:p.Ala113Glu
NM_001282677.2:c.338C>A	NP_001269606.1:p.Ala113Glu
NM_001282678.2:c.-322C>A	NP_001269607.1:n.-322C>A