Canonical Allele Identifier: CA365855920

Gene: PEX7

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826414G>A , CM000668.2:g.136826414G>A	GRCh38
NC_000006.11:g.137147552G>A , CM000668.1:g.137147552G>A	GRCh37
NC_000006.10:g.137189245G>A	NCBI36
NG_008462.1:g.8835G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000288.4:c.284G>A MANE Select	NP_000279.1:p.Trp95Ter
ENST00000318471.5:c.284G>A MANE Select	ENSP00000315680.3:p.Trp95Ter
NM_000288.3:c.284G>A	NP_000279.1:p.Trp95Ter
ENST00000318471.4:c.284G>A	ENSP00000315680.3:p.Trp95Ter
ENST00000367756.8:c.284G>A	ENSP00000356730.4:p.Trp95Ter
ENST00000541292.5:c.284G>A	ENSP00000441004.1:p.Trp95Ter
ENST00000541292.6:c.284G>A	ENSP00000441004.1:p.Trp95Ter
ENST00000678002.1:c.159G>A
ENST00000678557.1:c.170G>A	ENSP00000502962.1:p.Trp57Ter
ENST00000678593.1:c.289G>A	ENSP00000503841.1:n.289G>A
ENST00000679286.1:c.164G>A	ENSP00000503168.1:p.Trp55Ter
XM_005267019.3:c.170G>A	XP_005267076.1:p.Trp57Ter
XM_005267019.4:c.170G>A	XP_005267076.1:p.Trp57Ter
XM_006715502.1:c.284G>A	XP_006715565.1:p.Trp95Ter
XM_006715502.2:c.284G>A	XP_006715565.1:p.Trp95Ter
XM_011535900.1:c.284G>A	XP_011534202.1:p.Trp95Ter
XM_017010934.2:c.284G>A	XP_016866423.1:p.Trp95Ter