Canonical Allele Identifier: CA4341402

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511629A>C , CM000669.2:g.92511629A>C	GRCh38
NC_000007.13:g.92140943A>C , CM000669.1:g.92140943A>C	GRCh37
NC_000007.12:g.91978879A>C	NCBI36
NG_008341.1:g.21903T>G
NG_008341.2:g.21903T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000466.3:c.1434T>G MANE Select	NP_000457.1:p.Leu478=
ENST00000248633.9:c.1434T>G MANE Select	ENSP00000248633.4:p.Leu478=
NM_000466.2:c.1434T>G	NP_000457.1:p.Leu478=
NM_001282677.1:c.1434T>G	NP_001269606.1:p.Leu478=
NM_001282677.2:c.1434T>G	NP_001269606.1:p.Leu478=
NM_001282678.1:c.810T>G	NP_001269607.1:p.Leu270=
NM_001282678.2:c.810T>G	NP_001269607.1:p.Leu270=
ENST00000248633.8:c.1434T>G	ENSP00000248633.4:p.Leu478=
ENST00000422866.1:c.335T>G
ENST00000428214.5:c.1434T>G	ENSP00000394413.1:p.Leu478=
ENST00000438045.5:c.468T>G	ENSP00000410438.1:p.Leu156=
ENST00000476923.1:n.195T>G
ENST00000484913.5:n.1473T>G
XM_005250433.3:c.-233T>G	XP_005250490.1:n.-233T>G
XM_017012319.2:c.-233T>G	XP_016867808.1:n.-233T>G
XR_001744808.2:n.544T>G
XR_242246.3:n.1530T>G
XR_242246.5:n.1481T>G