Canonical Allele Identifier: CA368175468

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501574C>T , CM000669.2:g.92501574C>T	GRCh38
NC_000007.13:g.92130888C>T , CM000669.1:g.92130888C>T	GRCh37
NC_000007.12:g.91968824C>T	NCBI36
NG_008341.1:g.31958G>A
NG_008341.2:g.31958G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.2516G>A MANE Select	NP_000457.1:p.Trp839Ter
ENST00000248633.9:c.2516G>A MANE Select	ENSP00000248633.4:p.Trp839Ter
NM_000466.2:c.2516G>A	NP_000457.1:p.Trp839Ter
NM_001282677.1:c.2345G>A	NP_001269606.1:p.Trp782Ter
NM_001282677.2:c.2345G>A	NP_001269606.1:p.Trp782Ter
NM_001282678.1:c.1892G>A	NP_001269607.1:p.Trp631Ter
NM_001282678.2:c.1892G>A	NP_001269607.1:p.Trp631Ter
ENST00000248633.8:c.2516G>A	ENSP00000248633.4:p.Trp839Ter
ENST00000428214.5:c.2345G>A	ENSP00000394413.1:p.Trp782Ter
ENST00000438045.5:c.1550G>A	ENSP00000410438.1:p.Trp517Ter
ENST00000484913.5:n.2555G>A
ENST00000496420.5:n.2408G>A
XM_005250433.3:c.767G>A	XP_005250490.1:p.Trp256Ter
XM_017012319.2:c.767G>A	XP_016867808.1:p.Trp256Ter
XR_001744808.2:n.1543G>A
XR_242246.3:n.2612G>A
XR_242246.5:n.2563G>A