Canonical Allele Identifier: CA3134742743

Gene: PEX7

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136869950C= , CM000668.2:g.136869950C=	GRCh38
NC_000006.11:g.137191088C= , CM000668.1:g.137191088C=	GRCh37
NC_000006.10:g.137232781C=	NCBI36
NG_008462.1:g.52371C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.694C= MANE Select	ENSP00000315680.3:p.Arg232=
ENST00000541292.6:c.694C=	ENSP00000441004.1:p.Arg232=
ENST00000678002.1:c.382C=
ENST00000678557.1:c.580C=	ENSP00000502962.1:p.Arg194=
ENST00000678593.1:c.699C=	ENSP00000503841.1:n.699C=
ENST00000679286.1:c.574C=	ENSP00000503168.1:p.Arg192=
ENST00000318471.4:c.694C=	ENSP00000315680.3:p.Arg232=
ENST00000541292.5:c.694C=	ENSP00000441004.1:p.Arg232=
NM_000288.3:c.694C=	NP_000279.1:p.Arg232=
XM_005267019.3:c.580C=	XP_005267076.1:p.Arg194=
XM_006715502.1:c.400C=	XP_006715565.1:p.Arg134=
XM_011535900.1:c.526+23769C=	XP_011534202.1:n.526+23769C=
XM_005267019.4:c.580C=	XP_005267076.1:p.Arg194=
XM_006715502.2:c.400C=	XP_006715565.1:p.Arg134=
XM_017010934.2:c.526+23769C=	XP_016866423.1:n.526+23769C=
NM_000288.4:c.694C= MANE Select	NP_000279.1:p.Arg232=