Canonical Allele Identifier: CA4017534

Gene: PEX7

Linked Data

• ClinVar Variation Id: 2420845
• ClinVar RCV Id: RCV003122010
• dbSNP Id: rs756147829
• ExAC: 6:137147506 G / A
• gnomAD v2: 6-137147506-G-A
• gnomAD v3: 6-136826368-G-A
• gnomAD v4: 6-136826368-G-A
• MyVariant Identifiers: chr6:g.137147506G>A (hg19) ; chr6:g.136826368G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826368G>A , CM000668.2:g.136826368G>A	GRCh38
NC_000006.11:g.137147506G>A , CM000668.1:g.137147506G>A	GRCh37
NC_000006.10:g.137189199G>A	NCBI36
NG_008462.1:g.8789G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.238G>A MANE Select	ENSP00000315680.3:p.Glu80Lys
ENST00000541292.6:c.238G>A	ENSP00000441004.1:p.Glu80Lys
ENST00000678002.1:c.113G>A
ENST00000678557.1:c.124G>A	ENSP00000502962.1:p.Glu42Lys
ENST00000678593.1:c.243G>A	ENSP00000503841.1:n.243G>A
ENST00000679286.1:c.118G>A	ENSP00000503168.1:p.Glu40Lys
ENST00000318471.4:c.238G>A	ENSP00000315680.3:p.Glu80Lys
ENST00000367756.8:c.238G>A	ENSP00000356730.4:p.Glu80Lys
ENST00000541292.5:c.238G>A	ENSP00000441004.1:p.Glu80Lys
NM_000288.3:c.238G>A	NP_000279.1:p.Glu80Lys
XM_005267019.3:c.124G>A	XP_005267076.1:p.Glu42Lys
XM_006715502.1:c.238G>A	XP_006715565.1:p.Glu80Lys
XM_011535900.1:c.238G>A	XP_011534202.1:p.Glu80Lys
XM_005267019.4:c.124G>A	XP_005267076.1:p.Glu42Lys
XM_006715502.2:c.238G>A	XP_006715565.1:p.Glu80Lys
XM_017010934.2:c.238G>A	XP_016866423.1:p.Glu80Lys
NM_000288.4:c.238G>A MANE Select	NP_000279.1:p.Glu80Lys