Canonical Allele Identifier: CA365766761

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219350T>A (hg19) ; chr6:g.136898212T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898212T>A , CM000668.2:g.136898212T>A	GRCh38
NC_000006.11:g.137219350T>A , CM000668.1:g.137219350T>A	GRCh37
NC_000006.10:g.137261043T>A	NCBI36
NG_008462.1:g.80633T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.874T>A MANE Select	ENSP00000315680.3:p.Leu292Ile
ENST00000541292.6:c.*139T>A	ENSP00000441004.1:n.*139T>A
ENST00000678002.1:c.562T>A
ENST00000678557.1:c.760T>A	ENSP00000502962.1:p.Leu254Ile
ENST00000679286.1:c.754T>A	ENSP00000503168.1:p.Leu252Ile
ENST00000318471.4:c.874T>A	ENSP00000315680.3:p.Leu292Ile
NM_000288.3:c.874T>A	NP_000279.1:p.Leu292Ile
XM_005267019.3:c.760T>A	XP_005267076.1:p.Leu254Ile
XM_006715502.1:c.580T>A	XP_006715565.1:p.Leu194Ile
XM_011535900.1:c.597T>A	XP_011534202.1:p.Val199=
XM_005267019.4:c.760T>A	XP_005267076.1:p.Leu254Ile
XM_006715502.2:c.580T>A	XP_006715565.1:p.Leu194Ile
XM_017010934.2:c.597T>A	XP_016866423.1:p.Val199=
NM_000288.4:c.874T>A MANE Select	NP_000279.1:p.Leu292Ile