Canonical Allele Identifier: CA452231780

Gene: PEX7

Linked Data

• ClinVar Variation Id: 1570074
• ClinVar RCV Id: RCV002215105
• dbSNP Id: rs2115272962
• MyVariant Identifiers: chr6:g.137219298G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898160G>A , CM000668.2:g.136898160G>A	GRCh38
NC_000006.11:g.137219298G>A , CM000668.1:g.137219298G>A	GRCh37
NC_000006.10:g.137260991G>A	NCBI36
NG_008462.1:g.80581G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.822G>A MANE Select	ENSP00000315680.3:p.Lys274=
ENST00000541292.6:c.*87G>A	ENSP00000441004.1:n.*87G>A
ENST00000678002.1:c.510G>A
ENST00000678557.1:c.708G>A	ENSP00000502962.1:p.Lys236=
ENST00000679286.1:c.702G>A	ENSP00000503168.1:p.Lys234=
ENST00000318471.4:c.822G>A	ENSP00000315680.3:p.Lys274=
NM_000288.3:c.822G>A	NP_000279.1:p.Lys274=
XM_005267019.3:c.708G>A	XP_005267076.1:p.Lys236=
XM_006715502.1:c.528G>A	XP_006715565.1:p.Lys176=
XM_011535900.1:c.545G>A	XP_011534202.1:p.Ser182Asn
XM_005267019.4:c.708G>A	XP_005267076.1:p.Lys236=
XM_006715502.2:c.528G>A	XP_006715565.1:p.Lys176=
XM_017010934.2:c.545G>A	XP_016866423.1:p.Ser182Asn
NM_000288.4:c.822G>A MANE Select	NP_000279.1:p.Lys274=