Canonical Allele Identifier: CA368185177

Gene: PEX1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506313A>G , CM000669.2:g.92506313A>G	GRCh38
NC_000007.13:g.92135627A>G , CM000669.1:g.92135627A>G	GRCh37
NC_000007.12:g.91973563A>G	NCBI36
NG_008341.1:g.27219T>C
NG_008341.2:g.27219T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1835T>C MANE Select	ENSP00000248633.4:p.Ile612Thr
ENST00000248633.8:c.1835T>C	ENSP00000248633.4:p.Ile612Thr
ENST00000422866.1:c.653T>C
ENST00000428214.5:c.1835T>C	ENSP00000394413.1:p.Ile612Thr
ENST00000438045.5:c.869T>C	ENSP00000410438.1:p.Ile290Thr
ENST00000484913.5:n.1874T>C
ENST00000496420.5:n.1511T>C
NM_000466.2:c.1835T>C	NP_000457.1:p.Ile612Thr
NM_001282677.1:c.1835T>C	NP_001269606.1:p.Ile612Thr
NM_001282678.1:c.1211T>C	NP_001269607.1:p.Ile404Thr
XM_005250433.3:c.86T>C	XP_005250490.1:p.Ile29Thr
XR_242246.3:n.1931T>C
XM_017012319.2:c.86T>C	XP_016867808.1:p.Ile29Thr
XR_001744808.2:n.862T>C
XR_242246.5:n.1882T>C
NM_000466.3:c.1835T>C MANE Select	NP_000457.1:p.Ile612Thr
NM_001282677.2:c.1835T>C	NP_001269606.1:p.Ile612Thr
NM_001282678.2:c.1211T>C	NP_001269607.1:p.Ile404Thr