Canonical Allele Identifier: CA4017823

Gene: PEX7

Linked Data

• ClinVar Variation Id: 355538
• ClinVar RCV Id: RCV000340735 ; RCV000407255
• dbSNP Id: rs41288965
• ExAC: 6:137234702 G / A
• gnomAD v2: 6-137234702-G-A
• gnomAD v3: 6-136913564-G-A
• gnomAD v4: 6-136913564-G-A
• MyVariant Identifiers: chr6:g.137234702G>A (hg19) ; chr6:g.136913564G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136913564G>A , CM000668.2:g.136913564G>A	GRCh38
NC_000006.11:g.137234702G>A , CM000668.1:g.137234702G>A	GRCh37
NC_000006.10:g.137276395G>A	NCBI36
NG_008462.1:g.95985G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.*38G>A MANE Select	ENSP00000315680.3:n.*38G>A
ENST00000541292.6:c.*275G>A	ENSP00000441004.1:n.*275G>A
ENST00000678002.1:c.698G>A
ENST00000678557.1:c.*38G>A	ENSP00000502962.1:n.*38G>A
ENST00000679286.1:c.*38G>A	ENSP00000503168.1:n.*38G>A
ENST00000318471.4:c.*38G>A	ENSP00000315680.3:n.*38G>A
NM_000288.3:c.*38G>A	NP_000279.1:n.*38G>A
XM_005267019.3:c.*38G>A	XP_005267076.1:n.*38G>A
XM_006715502.1:c.*38G>A	XP_006715565.1:n.*38G>A
XM_005267019.4:c.*38G>A	XP_005267076.1:n.*38G>A
XM_006715502.2:c.*38G>A	XP_006715565.1:n.*38G>A
XM_017010934.2:c.*133G>A	XP_016866423.1:n.*133G>A
NM_000288.4:c.*38G>A MANE Select	NP_000279.1:n.*38G>A