Canonical Allele Identifier: CA365764497

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137193391G>A (hg19) ; chr6:g.136872253G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872253G>A , CM000668.2:g.136872253G>A	GRCh38
NC_000006.11:g.137193391G>A , CM000668.1:g.137193391G>A	GRCh37
NC_000006.10:g.137235084G>A	NCBI36
NG_008462.1:g.54674G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.803G>A MANE Select	ENSP00000315680.3:p.Arg268Lys
ENST00000541292.6:c.*68G>A	ENSP00000441004.1:n.*68G>A
ENST00000678002.1:c.491G>A
ENST00000678557.1:c.689G>A	ENSP00000502962.1:p.Arg230Lys
ENST00000678593.1:c.808G>A	ENSP00000503841.1:n.808G>A
ENST00000679286.1:c.683G>A	ENSP00000503168.1:p.Arg228Lys
ENST00000318471.4:c.803G>A	ENSP00000315680.3:p.Arg268Lys
NM_000288.3:c.803G>A	NP_000279.1:p.Arg268Lys
XM_005267019.3:c.689G>A	XP_005267076.1:p.Arg230Lys
XM_006715502.1:c.509G>A	XP_006715565.1:p.Arg170Lys
XM_011535900.1:c.527-25889G>A	XP_011534202.1:n.527-25889G>A
XM_005267019.4:c.689G>A	XP_005267076.1:p.Arg230Lys
XM_006715502.2:c.509G>A	XP_006715565.1:p.Arg170Lys
XM_017010934.2:c.527-25889G>A	XP_016866423.1:n.527-25889G>A
NM_000288.4:c.803G>A MANE Select	NP_000279.1:p.Arg268Lys