Canonical Allele Identifier: CA368202943

Gene: PEX1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92519011T>G , CM000669.2:g.92519011T>G	GRCh38
NC_000007.13:g.92148325T>G , CM000669.1:g.92148325T>G	GRCh37
NC_000007.12:g.91986261T>G	NCBI36
NG_008341.1:g.14521A>C
NG_008341.2:g.14521A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.341A>C MANE Select	ENSP00000248633.4:p.Asp114Ala
ENST00000248633.8:c.341A>C	ENSP00000248633.4:p.Asp114Ala
ENST00000428214.5:c.341A>C	ENSP00000394413.1:p.Asp114Ala
ENST00000438045.5:c.273+3091A>C	ENSP00000410438.1:n.273+3091A>C
ENST00000484913.5:n.345A>C
NM_000466.2:c.341A>C	NP_000457.1:p.Asp114Ala
NM_001282677.1:c.341A>C	NP_001269606.1:p.Asp114Ala
NM_001282678.1:c.-319A>C	NP_001269607.1:n.-319A>C
XR_242246.3:n.437A>C
XR_242246.5:n.388A>C
NM_000466.3:c.341A>C MANE Select	NP_000457.1:p.Asp114Ala
NM_001282677.2:c.341A>C	NP_001269606.1:p.Asp114Ala
NM_001282678.2:c.-319A>C	NP_001269607.1:n.-319A>C