Canonical Allele Identifier: CA340698

Gene: PEX7

Linked Data

• ClinVar Variation Id: 7780
• ClinVar RCV Id: RCV000008222 ; RCV000339271 ; RCV000352824 ; RCV000380952 ; RCV000477898 ; RCV000515356
• dbSNP Id: rs1805137
• ExAC: 6:137219351 T / A
• gnomAD v2: 6-137219351-T-A
• gnomAD v3: 6-136898213-T-A
• gnomAD v4: 6-136898213-T-A
• MyVariant Identifiers: chr6:g.137219351T>A (hg19) ; chr6:g.136898213T>A (hg38)
• PubMed: PMID:1773541 ; PMID:9090381 ; PMID:9090382 ; PMID:9090383 ; PMID:9686382 ; PMID:10083738 ; PMID:10673331 ; PMID:11756410 ; PMID:11781871 ; PMID:12325024 ; PMID:20301447 ; PMID:21465523 ; PMID:23572185 ; PMID:23891399 ; PMID:26587300

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898213T>A , CM000668.2:g.136898213T>A	GRCh38
NC_000006.11:g.137219351T>A , CM000668.1:g.137219351T>A	GRCh37
NC_000006.10:g.137261044T>A	NCBI36
NG_008462.1:g.80634T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.875T>A MANE Select	ENSP00000315680.3:p.Leu292Ter
ENST00000541292.6:c.*140T>A	ENSP00000441004.1:n.*140T>A
ENST00000678002.1:c.563T>A
ENST00000678557.1:c.761T>A	ENSP00000502962.1:p.Leu254Ter
ENST00000679286.1:c.755T>A	ENSP00000503168.1:p.Leu252Ter
ENST00000318471.4:c.875T>A	ENSP00000315680.3:p.Leu292Ter
NM_000288.3:c.875T>A	NP_000279.1:p.Leu292Ter
XM_005267019.3:c.761T>A	XP_005267076.1:p.Leu254Ter
XM_006715502.1:c.581T>A	XP_006715565.1:p.Leu194Ter
XM_011535900.1:c.598T>A	XP_011534202.1:p.Ter200Lys
XM_005267019.4:c.761T>A	XP_005267076.1:p.Leu254Ter
XM_006715502.2:c.581T>A	XP_006715565.1:p.Leu194Ter
XM_017010934.2:c.598T>A	XP_016866423.1:p.Ter200Lys
NM_000288.4:c.875T>A MANE Select	NP_000279.1:p.Leu292Ter