Canonical Allele Identifier: CA340702

Gene: PEX7

Linked Data

• ClinVar Variation Id: 7785
• ClinVar RCV Id: RCV000008227 ; RCV000309699 ; RCV000388756 ; RCV000579182 ; RCV001027954 ; RCV002496304
• dbSNP Id: rs148591292
• ExAC: 6:137219380 G / C
• gnomAD v2: 6-137219380-G-C
• gnomAD v3: 6-136898242-G-C
• gnomAD v4: 6-136898242-G-C
• MyVariant Identifiers: chr6:g.137219380G>C (hg19) ; chr6:g.136898242G>C (hg38)
• PubMed: PMID:9090383 ; PMID:11781871 ; PMID:12325024 ; PMID:20301447 ; PMID:23572185 ; PMID:23891399 ; PMID:26408048

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898242G>C , CM000668.2:g.136898242G>C	GRCh38
NC_000006.11:g.137219380G>C , CM000668.1:g.137219380G>C	GRCh37
NC_000006.10:g.137261073G>C	NCBI36
NG_008462.1:g.80663G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.903+1G>C MANE Select	ENSP00000315680.3:n.903+1G>C
ENST00000541292.6:c.*168+1G>C	ENSP00000441004.1:n.*168+1G>C
ENST00000678002.1:c.591+1G>C
ENST00000678557.1:c.789+1G>C	ENSP00000502962.1:n.789+1G>C
ENST00000679286.1:c.783+1G>C	ENSP00000503168.1:n.783+1G>C
ENST00000318471.4:c.903+1G>C	ENSP00000315680.3:n.903+1G>C
NM_000288.3:c.903+1G>C	NP_000279.1:n.903+1G>C
XM_005267019.3:c.789+1G>C	XP_005267076.1:n.789+1G>C
XM_006715502.1:c.609+1G>C	XP_006715565.1:n.609+1G>C
XM_005267019.4:c.789+1G>C	XP_005267076.1:n.789+1G>C
XM_006715502.2:c.609+1G>C	XP_006715565.1:n.609+1G>C
XM_017010934.2:c.*26+1G>C	XP_016866423.1:n.*26+1G>C
NM_000288.4:c.903+1G>C MANE Select	NP_000279.1:n.903+1G>C