Canonical Allele Identifier: CA4017510

Gene: PEX7

Linked Data

• ClinVar Variation Id: 355529
• ClinVar RCV Id: RCV000293982 ; RCV000348944 ; RCV000595599 ; RCV001252341 ; RCV004544665
• dbSNP Id: rs200234391
• ExAC: 6:137146412 A / G
• gnomAD v2: 6-137146412-A-G
• gnomAD v3: 6-136825274-A-G
• gnomAD v4: 6-136825274-A-G
• MyVariant Identifiers: chr6:g.137146412A>G (hg19) ; chr6:g.136825274A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136825274A>G , CM000668.2:g.136825274A>G	GRCh38
NC_000006.11:g.137146412A>G , CM000668.1:g.137146412A>G	GRCh37
NC_000006.10:g.137188105A>G	NCBI36
NG_008462.1:g.7695A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.188+3A>G MANE Select	ENSP00000315680.3:n.188+3A>G
ENST00000541292.6:c.188+3A>G	ENSP00000441004.1:n.188+3A>G
ENST00000678002.1:c.58+3A>G
ENST00000678557.1:c.74+3A>G	ENSP00000502962.1:n.74+3A>G
ENST00000678593.1:c.188+3A>G	ENSP00000503841.1:n.188+3A>G
ENST00000679286.1:c.68+3A>G	ENSP00000503168.1:n.68+3A>G
ENST00000318471.4:c.188+3A>G	ENSP00000315680.3:n.188+3A>G
ENST00000367756.8:c.188+3A>G	ENSP00000356730.4:n.188+3A>G
ENST00000541292.5:c.188+3A>G	ENSP00000441004.1:n.188+3A>G
NM_000288.3:c.188+3A>G	NP_000279.1:n.188+3A>G
XM_005267019.3:c.74+3A>G	XP_005267076.1:n.74+3A>G
XM_006715502.1:c.188+3A>G	XP_006715565.1:n.188+3A>G
XM_011535900.1:c.188+3A>G	XP_011534202.1:n.188+3A>G
XM_005267019.4:c.74+3A>G	XP_005267076.1:n.74+3A>G
XM_006715502.2:c.188+3A>G	XP_006715565.1:n.188+3A>G
XM_017010934.2:c.188+3A>G	XP_016866423.1:n.188+3A>G
NM_000288.4:c.188+3A>G MANE Select	NP_000279.1:n.188+3A>G