Canonical Allele Identifier: CA4017754

Gene: PEX7

Linked Data

• ClinVar Variation Id: 1402405
• ClinVar RCV Id: RCV001925110
• dbSNP Id: rs771916687
• ExAC: 6:137193357 G / A
• gnomAD v2: 6-137193357-G-A
• gnomAD v3: 6-136872219-G-A
• gnomAD v4: 6-136872219-G-A
• MyVariant Identifiers: chr6:g.137193357G>A (hg19) ; chr6:g.136872219G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872219G>A , CM000668.2:g.136872219G>A	GRCh38
NC_000006.11:g.137193357G>A , CM000668.1:g.137193357G>A	GRCh37
NC_000006.10:g.137235050G>A	NCBI36
NG_008462.1:g.54640G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.769G>A MANE Select	ENSP00000315680.3:p.Val257Met
ENST00000541292.6:c.*34G>A	ENSP00000441004.1:n.*34G>A
ENST00000678002.1:c.457G>A
ENST00000678557.1:c.655G>A	ENSP00000502962.1:p.Val219Met
ENST00000678593.1:c.774G>A	ENSP00000503841.1:n.774G>A
ENST00000679286.1:c.649G>A	ENSP00000503168.1:p.Val217Met
ENST00000318471.4:c.769G>A	ENSP00000315680.3:p.Val257Met
NM_000288.3:c.769G>A	NP_000279.1:p.Val257Met
XM_005267019.3:c.655G>A	XP_005267076.1:p.Val219Met
XM_006715502.1:c.475G>A	XP_006715565.1:p.Val159Met
XM_011535900.1:c.527-25923G>A	XP_011534202.1:n.527-25923G>A
XM_005267019.4:c.655G>A	XP_005267076.1:p.Val219Met
XM_006715502.2:c.475G>A	XP_006715565.1:p.Val159Met
XM_017010934.2:c.527-25923G>A	XP_016866423.1:n.527-25923G>A
NM_000288.4:c.769G>A MANE Select	NP_000279.1:p.Val257Met