Canonical Allele Identifier: CA148200986

Gene: PEX7

Linked Data

• ClinVar Variation Id: 2706310
• ClinVar RCV Id: RCV003536403
• dbSNP Id: rs267608256
• gnomAD v4: 6-136870004-G-A
• MyVariant Identifiers: chr6:g.137191142G>A (hg19) ; chr6:g.136870004G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136870004G>A , CM000668.2:g.136870004G>A	GRCh38
NC_000006.11:g.137191142G>A , CM000668.1:g.137191142G>A	GRCh37
NC_000006.10:g.137232835G>A	NCBI36
NG_008462.1:g.52425G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.747+1G>A MANE Select	ENSP00000315680.3:n.747+1G>A
ENST00000541292.6:c.747+1G>A	ENSP00000441004.1:n.747+1G>A
ENST00000678002.1:c.435+1G>A
ENST00000678557.1:c.633+1G>A	ENSP00000502962.1:n.633+1G>A
ENST00000678593.1:c.752+1G>A	ENSP00000503841.1:n.752+1G>A
ENST00000679286.1:c.627+1G>A	ENSP00000503168.1:n.627+1G>A
ENST00000318471.4:c.747+1G>A	ENSP00000315680.3:n.747+1G>A
ENST00000541292.5:c.747+1G>A	ENSP00000441004.1:n.747+1G>A
NM_000288.3:c.747+1G>A	NP_000279.1:n.747+1G>A
XM_005267019.3:c.633+1G>A	XP_005267076.1:n.633+1G>A
XM_006715502.1:c.453+1G>A	XP_006715565.1:n.453+1G>A
XM_011535900.1:c.526+23823G>A	XP_011534202.1:n.526+23823G>A
XM_005267019.4:c.633+1G>A	XP_005267076.1:n.633+1G>A
XM_006715502.2:c.453+1G>A	XP_006715565.1:n.453+1G>A
XM_017010934.2:c.526+23823G>A	XP_016866423.1:n.526+23823G>A
NM_000288.4:c.747+1G>A MANE Select	NP_000279.1:n.747+1G>A