Canonical Allele Identifier: CA365763996

Gene: PEX7

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136869924T>A , CM000668.2:g.136869924T>A	GRCh38
NC_000006.11:g.137191062T>A , CM000668.1:g.137191062T>A	GRCh37
NC_000006.10:g.137232755T>A	NCBI36
NG_008462.1:g.52345T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000288.4:c.668T>A MANE Select	NP_000279.1:p.Leu223Ter
ENST00000318471.5:c.668T>A MANE Select	ENSP00000315680.3:p.Leu223Ter
NM_000288.3:c.668T>A	NP_000279.1:p.Leu223Ter
ENST00000318471.4:c.668T>A	ENSP00000315680.3:p.Leu223Ter
ENST00000541292.5:c.668T>A	ENSP00000441004.1:p.Leu223Ter
ENST00000541292.6:c.668T>A	ENSP00000441004.1:p.Leu223Ter
ENST00000678002.1:c.356T>A
ENST00000678557.1:c.554T>A	ENSP00000502962.1:p.Leu185Ter
ENST00000678593.1:c.673T>A	ENSP00000503841.1:n.673T>A
ENST00000679286.1:c.548T>A	ENSP00000503168.1:p.Leu183Ter
XM_005267019.3:c.554T>A	XP_005267076.1:p.Leu185Ter
XM_005267019.4:c.554T>A	XP_005267076.1:p.Leu185Ter
XM_006715502.1:c.374T>A	XP_006715565.1:p.Leu125Ter
XM_006715502.2:c.374T>A	XP_006715565.1:p.Leu125Ter
XM_011535900.1:c.526+23743T>A	XP_011534202.1:n.526+23743T>A
XM_017010934.2:c.526+23743T>A	XP_016866423.1:n.526+23743T>A