Canonical Allele Identifier: CA1725936983

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92503072T= , CM000669.2:g.92503072T=	GRCh38
NC_000007.13:g.92132386T= , CM000669.1:g.92132386T=	GRCh37
NC_000007.12:g.91970322T=	NCBI36
NG_008341.1:g.30460A=
NG_008341.2:g.30460A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.2195A= MANE Select	ENSP00000248633.4:p.Gln732=
ENST00000248633.8:c.2195A=	ENSP00000248633.4:p.Gln732=
ENST00000428214.5:c.2024A=	ENSP00000394413.1:p.Gln675=
ENST00000438045.5:c.1229A=	ENSP00000410438.1:p.Gln410=
ENST00000484913.5:n.2234A=
ENST00000496420.5:n.1871A=
NM_000466.2:c.2195A=	NP_000457.1:p.Gln732=
NM_001282677.1:c.2024A=	NP_001269606.1:p.Gln675=
NM_001282678.1:c.1571A=	NP_001269607.1:p.Gln524=
XM_005250433.3:c.446A=	XP_005250490.1:p.Gln149=
XR_242246.3:n.2291A=
XM_017012319.2:c.446A=	XP_016867808.1:p.Gln149=
XR_001744808.2:n.1222A=
XR_242246.5:n.2242A=
NM_000466.3:c.2195A= MANE Select	NP_000457.1:p.Gln732=
NM_001282677.2:c.2024A=	NP_001269606.1:p.Gln675=
NM_001282678.2:c.1571A=	NP_001269607.1:p.Gln524=