Canonical Allele Identifier: CA2680489819

Gene: PEX7

Linked Data

• ClinVar Variation Id: 2960221
• ClinVar RCV Id: RCV003814981
• gnomAD v4: 6-136866751-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136866751A>G , CM000668.2:g.136866751A>G	GRCh38
NC_000006.11:g.137187889A>G , CM000668.1:g.137187889A>G	GRCh37
NC_000006.10:g.137229582A>G	NCBI36
NG_008462.1:g.49172A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.633+18A>G MANE Select	ENSP00000315680.3:n.633+18A>G
ENST00000541292.6:c.633+18A>G	ENSP00000441004.1:n.633+18A>G
ENST00000678002.1:c.321+18A>G
ENST00000678557.1:c.519+18A>G	ENSP00000502962.1:n.519+18A>G
ENST00000678593.1:c.638+18A>G	ENSP00000503841.1:n.638+18A>G
ENST00000679286.1:c.513+18A>G	ENSP00000503168.1:n.513+18A>G
ENST00000318471.4:c.633+18A>G	ENSP00000315680.3:n.633+18A>G
ENST00000541292.5:c.633+18A>G	ENSP00000441004.1:n.633+18A>G
NM_000288.3:c.633+18A>G	NP_000279.1:n.633+18A>G
XM_005267019.3:c.519+18A>G	XP_005267076.1:n.519+18A>G
XM_006715502.1:c.340-3139A>G	XP_006715565.1:n.340-3139A>G
XM_011535900.1:c.526+20570A>G	XP_011534202.1:n.526+20570A>G
XM_005267019.4:c.519+18A>G	XP_005267076.1:n.519+18A>G
XM_006715502.2:c.340-3139A>G	XP_006715565.1:n.340-3139A>G
XM_017010934.2:c.526+20570A>G	XP_016866423.1:n.526+20570A>G
NM_000288.4:c.633+18A>G MANE Select	NP_000279.1:n.633+18A>G