Canonical Allele Identifier: CA368204891

Gene: PEX1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92522158C>G , CM000669.2:g.92522158C>G	GRCh38
NC_000007.13:g.92151472C>G , CM000669.1:g.92151472C>G	GRCh37
NC_000007.12:g.91989408C>G	NCBI36
NG_008341.1:g.11374G>C
NG_008341.2:g.11374G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.217G>C MANE Select	ENSP00000248633.4:p.Val73Leu
ENST00000248633.8:c.217G>C	ENSP00000248633.4:p.Val73Leu
ENST00000428214.5:c.217G>C	ENSP00000394413.1:p.Val73Leu
ENST00000438045.5:c.217G>C	ENSP00000410438.1:p.Val73Leu
ENST00000484913.5:n.221G>C
NM_000466.2:c.217G>C	NP_000457.1:p.Val73Leu
NM_001282677.1:c.217G>C	NP_001269606.1:p.Val73Leu
NM_001282678.1:c.-443G>C	NP_001269607.1:n.-443G>C
XR_242246.3:n.313G>C
XR_242246.5:n.264G>C
NM_000466.3:c.217G>C MANE Select	NP_000457.1:p.Val73Leu
NM_001282677.2:c.217G>C	NP_001269606.1:p.Val73Leu
NM_001282678.2:c.-443G>C	NP_001269607.1:n.-443G>C