Canonical Allele Identifier: CA148641045

Gene: PEX7

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136825272G>A , CM000668.2:g.136825272G>A	GRCh38
NC_000006.11:g.137146410G>A , CM000668.1:g.137146410G>A	GRCh37
NC_000006.10:g.137188103G>A	NCBI36
NG_008462.1:g.7693G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.188+1G>A MANE Select	ENSP00000315680.3:n.188+1G>A
ENST00000541292.6:c.188+1G>A	ENSP00000441004.1:n.188+1G>A
ENST00000678002.1:c.58+1G>A
ENST00000678557.1:c.74+1G>A	ENSP00000502962.1:n.74+1G>A
ENST00000678593.1:c.188+1G>A	ENSP00000503841.1:n.188+1G>A
ENST00000679286.1:c.68+1G>A	ENSP00000503168.1:n.68+1G>A
ENST00000318471.4:c.188+1G>A	ENSP00000315680.3:n.188+1G>A
ENST00000367756.8:c.188+1G>A	ENSP00000356730.4:n.188+1G>A
ENST00000541292.5:c.188+1G>A	ENSP00000441004.1:n.188+1G>A
NM_000288.3:c.188+1G>A	NP_000279.1:n.188+1G>A
XM_005267019.3:c.74+1G>A	XP_005267076.1:n.74+1G>A
XM_006715502.1:c.188+1G>A	XP_006715565.1:n.188+1G>A
XM_011535900.1:c.188+1G>A	XP_011534202.1:n.188+1G>A
XM_005267019.4:c.74+1G>A	XP_005267076.1:n.74+1G>A
XM_006715502.2:c.188+1G>A	XP_006715565.1:n.188+1G>A
XM_017010934.2:c.188+1G>A	XP_016866423.1:n.188+1G>A
NM_000288.4:c.188+1G>A MANE Select	NP_000279.1:n.188+1G>A