Canonical Allele Identifier: CA2566511497

Gene: PEX7

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872512G>A , CM000668.2:g.136872512G>A	GRCh38
NC_000006.11:g.137193650G>A , CM000668.1:g.137193650G>A	GRCh37
NC_000006.10:g.137235343G>A	NCBI36
NG_008462.1:g.54933G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.803+259G>A MANE Select	ENSP00000315680.3:n.803+259G>A
ENST00000541292.6:c.*68+259G>A	ENSP00000441004.1:n.*68+259G>A
ENST00000678002.1:c.491+259G>A
ENST00000678557.1:c.689+259G>A	ENSP00000502962.1:n.689+259G>A
ENST00000678593.1:c.1067G>A	ENSP00000503841.1:n.1067G>A
ENST00000679286.1:c.683+259G>A	ENSP00000503168.1:n.683+259G>A
ENST00000318471.4:c.803+259G>A	ENSP00000315680.3:n.803+259G>A
NM_000288.3:c.803+259G>A	NP_000279.1:n.803+259G>A
XM_005267019.3:c.689+259G>A	XP_005267076.1:n.689+259G>A
XM_006715502.1:c.509+259G>A	XP_006715565.1:n.509+259G>A
XM_011535900.1:c.527-25630G>A	XP_011534202.1:n.527-25630G>A
XM_005267019.4:c.689+259G>A	XP_005267076.1:n.689+259G>A
XM_006715502.2:c.509+259G>A	XP_006715565.1:n.509+259G>A
XM_017010934.2:c.527-25630G>A	XP_016866423.1:n.527-25630G>A
NM_000288.4:c.803+259G>A MANE Select	NP_000279.1:n.803+259G>A