Canonical Allele Identifier: CA452228802

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137193386T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872248T>A , CM000668.2:g.136872248T>A	GRCh38
NC_000006.11:g.137193386T>A , CM000668.1:g.137193386T>A	GRCh37
NC_000006.10:g.137235079T>A	NCBI36
NG_008462.1:g.54669T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.798T>A MANE Select	ENSP00000315680.3:p.Thr266=
ENST00000541292.6:c.*63T>A	ENSP00000441004.1:n.*63T>A
ENST00000678002.1:c.486T>A
ENST00000678557.1:c.684T>A	ENSP00000502962.1:p.Thr228=
ENST00000678593.1:c.803T>A	ENSP00000503841.1:n.803T>A
ENST00000679286.1:c.678T>A	ENSP00000503168.1:p.Thr226=
ENST00000318471.4:c.798T>A	ENSP00000315680.3:p.Thr266=
NM_000288.3:c.798T>A	NP_000279.1:p.Thr266=
XM_005267019.3:c.684T>A	XP_005267076.1:p.Thr228=
XM_006715502.1:c.504T>A	XP_006715565.1:p.Thr168=
XM_011535900.1:c.527-25894T>A	XP_011534202.1:n.527-25894T>A
XM_005267019.4:c.684T>A	XP_005267076.1:p.Thr228=
XM_006715502.2:c.504T>A	XP_006715565.1:p.Thr168=
XM_017010934.2:c.527-25894T>A	XP_016866423.1:n.527-25894T>A
NM_000288.4:c.798T>A MANE Select	NP_000279.1:p.Thr266=