Canonical Allele Identifier: CA368190248

Gene: PEX1

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511012A>G , CM000669.2:g.92511012A>G	GRCh38
NC_000007.13:g.92140326A>G , CM000669.1:g.92140326A>G	GRCh37
NC_000007.12:g.91978262A>G	NCBI36
NG_008341.1:g.22520T>C
NG_008341.2:g.22520T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1519T>C MANE Select	ENSP00000248633.4:p.Trp507Arg
ENST00000248633.8:c.1519T>C	ENSP00000248633.4:p.Trp507Arg
ENST00000422866.1:c.420T>C
ENST00000428214.5:c.1519T>C	ENSP00000394413.1:p.Trp507Arg
ENST00000438045.5:c.553T>C	ENSP00000410438.1:p.Trp185Arg
ENST00000476923.1:n.280T>C
ENST00000484913.5:n.1558T>C
NM_000466.2:c.1519T>C	NP_000457.1:p.Trp507Arg
NM_001282677.1:c.1519T>C	NP_001269606.1:p.Trp507Arg
NM_001282678.1:c.895T>C	NP_001269607.1:p.Trp299Arg
XM_005250433.3:c.-148T>C	XP_005250490.1:n.-148T>C
XR_242246.3:n.1615T>C
XM_017012319.2:c.-148T>C	XP_016867808.1:n.-148T>C
XR_001744808.2:n.629T>C
XR_242246.5:n.1566T>C
NM_000466.3:c.1519T>C MANE Select	NP_000457.1:p.Trp507Arg
NM_001282677.2:c.1519T>C	NP_001269606.1:p.Trp507Arg
NM_001282678.2:c.895T>C	NP_001269607.1:p.Trp299Arg