Canonical Allele Identifier: CA16041017

Gene: PEX7

Linked Data

• ClinVar Variation Id: 371080
• ClinVar RCV Id: RCV000411695 ; RCV001861385
• dbSNP Id: rs1057516989
• MyVariant Identifiers: chr6:g.137187872G>A (hg19) ; chr6:g.136866734G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136866734G>A , CM000668.2:g.136866734G>A	GRCh38
NC_000006.11:g.137187872G>A , CM000668.1:g.137187872G>A	GRCh37
NC_000006.10:g.137229565G>A	NCBI36
NG_008462.1:g.49155G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.633+1G>A MANE Select	ENSP00000315680.3:n.633+1G>A
ENST00000541292.6:c.633+1G>A	ENSP00000441004.1:n.633+1G>A
ENST00000678002.1:c.321+1G>A
ENST00000678557.1:c.519+1G>A	ENSP00000502962.1:n.519+1G>A
ENST00000678593.1:c.638+1G>A	ENSP00000503841.1:n.638+1G>A
ENST00000679286.1:c.513+1G>A	ENSP00000503168.1:n.513+1G>A
ENST00000318471.4:c.633+1G>A	ENSP00000315680.3:n.633+1G>A
ENST00000541292.5:c.633+1G>A	ENSP00000441004.1:n.633+1G>A
NM_000288.3:c.633+1G>A	NP_000279.1:n.633+1G>A
XM_005267019.3:c.519+1G>A	XP_005267076.1:n.519+1G>A
XM_006715502.1:c.340-3156G>A	XP_006715565.1:n.340-3156G>A
XM_011535900.1:c.526+20553G>A	XP_011534202.1:n.526+20553G>A
XM_005267019.4:c.519+1G>A	XP_005267076.1:n.519+1G>A
XM_006715502.2:c.340-3156G>A	XP_006715565.1:n.340-3156G>A
XM_017010934.2:c.526+20553G>A	XP_016866423.1:n.526+20553G>A
NM_000288.4:c.633+1G>A MANE Select	NP_000279.1:n.633+1G>A