Canonical Allele Identifier: CA2838019266

Gene: PEX7

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898213T= , CM000668.2:g.136898213T=	GRCh38
NC_000006.11:g.137219351T= , CM000668.1:g.137219351T=	GRCh37
NC_000006.10:g.137261044T=	NCBI36
NG_008462.1:g.80634T=

Transcript Alleles

HGVS	Amino-acid Change
NM_000288.4:c.875T= MANE Select	NP_000279.1:p.Leu292=
ENST00000318471.5:c.875T= MANE Select	ENSP00000315680.3:p.Leu292=
NM_000288.3:c.875T=	NP_000279.1:p.Leu292=
ENST00000318471.4:c.875T=	ENSP00000315680.3:p.Leu292=
ENST00000541292.6:c.*140T=	ENSP00000441004.1:n.*140T=
ENST00000678002.1:c.563T=
ENST00000678557.1:c.761T=	ENSP00000502962.1:p.Leu254=
ENST00000679286.1:c.755T=	ENSP00000503168.1:p.Leu252=
XM_005267019.3:c.761T=	XP_005267076.1:p.Leu254=
XM_005267019.4:c.761T=	XP_005267076.1:p.Leu254=
XM_006715502.1:c.581T=	XP_006715565.1:p.Leu194=
XM_006715502.2:c.581T=	XP_006715565.1:p.Leu194=
XM_011535900.1:c.598T=	XP_011534202.1:p.Ter200=
XM_017010934.2:c.598T=	XP_016866423.1:p.Ter200=