Canonical Allele Identifier: CA368176603

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92501670A>T , CM000669.2:g.92501670A>T	GRCh38
NC_000007.13:g.92130984A>T , CM000669.1:g.92130984A>T	GRCh37
NC_000007.12:g.91968920A>T	NCBI36
NG_008341.1:g.31862T>A
NG_008341.2:g.31862T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.2420T>A MANE Select	NP_000457.1:p.Leu807Ter
ENST00000248633.9:c.2420T>A MANE Select	ENSP00000248633.4:p.Leu807Ter
NM_000466.2:c.2420T>A	NP_000457.1:p.Leu807Ter
NM_001282677.1:c.2249T>A	NP_001269606.1:p.Leu750Ter
NM_001282677.2:c.2249T>A	NP_001269606.1:p.Leu750Ter
NM_001282678.1:c.1796T>A	NP_001269607.1:p.Leu599Ter
NM_001282678.2:c.1796T>A	NP_001269607.1:p.Leu599Ter
ENST00000248633.8:c.2420T>A	ENSP00000248633.4:p.Leu807Ter
ENST00000428214.5:c.2249T>A	ENSP00000394413.1:p.Leu750Ter
ENST00000438045.5:c.1454T>A	ENSP00000410438.1:p.Leu485Ter
ENST00000484913.5:n.2459T>A
ENST00000496420.5:n.2312T>A
XM_005250433.3:c.671T>A	XP_005250490.1:p.Leu224Ter
XM_017012319.2:c.671T>A	XP_016867808.1:p.Leu224Ter
XR_001744808.2:n.1447T>A
XR_242246.3:n.2516T>A
XR_242246.5:n.2467T>A