Canonical Allele Identifier: CA452377100

Gene: PEX7

Linked Data

• ClinVar Variation Id: 2094291
• ClinVar RCV Id: RCV003021266
• MyVariant Identifiers: chr6:g.137147604G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826466G>A , CM000668.2:g.136826466G>A	GRCh38
NC_000006.11:g.137147604G>A , CM000668.1:g.137147604G>A	GRCh37
NC_000006.10:g.137189297G>A	NCBI36
NG_008462.1:g.8887G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.336G>A MANE Select	ENSP00000315680.3:p.Gln112=
ENST00000541292.6:c.336G>A	ENSP00000441004.1:p.Gln112=
ENST00000678002.1:c.211G>A
ENST00000678557.1:c.222G>A	ENSP00000502962.1:p.Gln74=
ENST00000678593.1:c.341G>A	ENSP00000503841.1:n.341G>A
ENST00000679286.1:c.216G>A	ENSP00000503168.1:p.Gln72=
ENST00000318471.4:c.336G>A	ENSP00000315680.3:p.Gln112=
ENST00000367756.8:c.336G>A	ENSP00000356730.4:p.Gln112=
ENST00000541292.5:c.336G>A	ENSP00000441004.1:p.Gln112=
NM_000288.3:c.336G>A	NP_000279.1:p.Gln112=
XM_005267019.3:c.222G>A	XP_005267076.1:p.Gln74=
XM_006715502.1:c.336G>A	XP_006715565.1:p.Gln112=
XM_011535900.1:c.336G>A	XP_011534202.1:p.Gln112=
XM_005267019.4:c.222G>A	XP_005267076.1:p.Gln74=
XM_006715502.2:c.336G>A	XP_006715565.1:p.Gln112=
XM_017010934.2:c.336G>A	XP_016866423.1:p.Gln112=
NM_000288.4:c.336G>A MANE Select	NP_000279.1:p.Gln112=