Canonical Allele Identifier: CA1725941273

Gene: PEX1

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.92506352A= , CM000669.2:g.92506352A=	GRCh38
NC_000007.13:g.92135666A= , CM000669.1:g.92135666A=	GRCh37
NC_000007.12:g.91973602A=	NCBI36
NG_008341.1:g.27180T=
NG_008341.2:g.27180T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000248633.9:c.1804-8T= MANE Select	ENSP00000248633.4:n.1804-8T=
ENST00000248633.8:c.1804-8T=	ENSP00000248633.4:n.1804-8T=
ENST00000422866.1:c.622-8T=
ENST00000428214.5:c.1804-8T=	ENSP00000394413.1:n.1804-8T=
ENST00000438045.5:c.838-8T=	ENSP00000410438.1:n.838-8T=
ENST00000484913.5:n.1843-8T=
ENST00000496420.5:n.1472T=
NM_000466.2:c.1804-8T=	NP_000457.1:n.1804-8T=
NM_001282677.1:c.1804-8T=	NP_001269606.1:n.1804-8T=
NM_001282678.1:c.1180-8T=	NP_001269607.1:n.1180-8T=
XM_005250433.3:c.55-8T=	XP_005250490.1:n.55-8T=
XR_242246.3:n.1900-8T=
XM_017012319.2:c.55-8T=	XP_016867808.1:n.55-8T=
XR_001744808.2:n.831-8T=
XR_242246.5:n.1851-8T=
NM_000466.3:c.1804-8T= MANE Select	NP_000457.1:n.1804-8T=
NM_001282677.2:c.1804-8T=	NP_001269606.1:n.1804-8T=
NM_001282678.2:c.1180-8T=	NP_001269607.1:n.1180-8T=