Canonical Allele Identifier: CA238582

Gene: PEX7

Linked Data

• ClinVar Variation Id: 193077
• ClinVar RCV Id: RCV000173101 ; RCV001461024 ; RCV004539594
• dbSNP Id: rs794726882
• gnomAD v4: 6-136822805-C-A
• MyVariant Identifiers: chr6:g.137143943C>A (hg19) ; chr6:g.136822805C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136822805C>A , CM000668.2:g.136822805C>A	GRCh38
NC_000006.11:g.137143943C>A , CM000668.1:g.137143943C>A	GRCh37
NC_000006.10:g.137185636C>A	NCBI36
NG_008462.1:g.5226C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.130+10C>A MANE Select	ENSP00000315680.3:n.130+10C>A
ENST00000541292.6:c.130+10C>A	ENSP00000441004.1:n.130+10C>A
ENST00000678593.1:c.130+10C>A	ENSP00000503841.1:n.130+10C>A
ENST00000318471.4:c.130+10C>A	ENSP00000315680.3:n.130+10C>A
ENST00000367756.8:c.130+10C>A	ENSP00000356730.4:n.130+10C>A
ENST00000541292.5:c.130+10C>A	ENSP00000441004.1:n.130+10C>A
NM_000288.3:c.130+10C>A	NP_000279.1:n.130+10C>A
XM_006715502.1:c.130+10C>A	XP_006715565.1:n.130+10C>A
XM_011535900.1:c.130+10C>A	XP_011534202.1:n.130+10C>A
XM_006715502.2:c.130+10C>A	XP_006715565.1:n.130+10C>A
XM_017010934.2:c.130+10C>A	XP_016866423.1:n.130+10C>A
NM_000288.4:c.130+10C>A MANE Select	NP_000279.1:n.130+10C>A