Canonical Allele Identifier: CA4341697

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92528348G>A , CM000669.2:g.92528348G>A	GRCh38
NC_000007.13:g.92157662G>A , CM000669.1:g.92157662G>A	GRCh37
NC_000007.12:g.91995598G>A	NCBI36
NG_008341.1:g.5184C>T
NG_008341.2:g.5184C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.88C>T MANE Select	NP_000457.1:p.His30Tyr
ENST00000248633.9:c.88C>T MANE Select	ENSP00000248633.4:p.His30Tyr
NM_000466.2:c.88C>T	NP_000457.1:p.His30Tyr
NM_001282677.1:c.88C>T	NP_001269606.1:p.His30Tyr
NM_001282677.2:c.88C>T	NP_001269606.1:p.His30Tyr
NM_001282678.1:c.-572C>T	NP_001269607.1:n.-572C>T
NM_001282678.2:c.-572C>T	NP_001269607.1:n.-572C>T
ENST00000248633.8:c.88C>T	ENSP00000248633.4:p.His30Tyr
ENST00000428214.5:c.88C>T	ENSP00000394413.1:p.His30Tyr
ENST00000438045.5:c.88C>T	ENSP00000410438.1:p.His30Tyr
ENST00000484913.5:n.92C>T
XR_242246.3:n.184C>T
XR_242246.5:n.135C>T