Canonical Allele Identifier: CA1725937964

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92511023A= , CM000669.2:g.92511023A=	GRCh38
NC_000007.13:g.92140337A= , CM000669.1:g.92140337A=	GRCh37
NC_000007.12:g.91978273A=	NCBI36
NG_008341.1:g.22509T=
NG_008341.2:g.22509T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1508T= MANE Select	ENSP00000248633.4:p.Ile503=
ENST00000248633.8:c.1508T=	ENSP00000248633.4:p.Ile503=
ENST00000422866.1:c.409T=
ENST00000428214.5:c.1508T=	ENSP00000394413.1:p.Ile503=
ENST00000438045.5:c.542T=	ENSP00000410438.1:p.Ile181=
ENST00000476923.1:n.269T=
ENST00000484913.5:n.1547T=
NM_000466.2:c.1508T=	NP_000457.1:p.Ile503=
NM_001282677.1:c.1508T=	NP_001269606.1:p.Ile503=
NM_001282678.1:c.884T=	NP_001269607.1:p.Ile295=
XM_005250433.3:c.-159T=	XP_005250490.1:n.-159T=
XR_242246.3:n.1604T=
XM_017012319.2:c.-159T=	XP_016867808.1:n.-159T=
XR_001744808.2:n.618T=
XR_242246.5:n.1555T=
NM_000466.3:c.1508T= MANE Select	NP_000457.1:p.Ile503=
NM_001282677.2:c.1508T=	NP_001269606.1:p.Ile503=
NM_001282678.2:c.884T=	NP_001269607.1:p.Ile295=