Canonical Allele Identifier: CA365764495

Gene: PEX7

Linked Data

• gnomAD v4: 6-136872252-A-G
• MyVariant Identifiers: chr6:g.137193390A>G (hg19) ; chr6:g.136872252A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872252A>G , CM000668.2:g.136872252A>G	GRCh38
NC_000006.11:g.137193390A>G , CM000668.1:g.137193390A>G	GRCh37
NC_000006.10:g.137235083A>G	NCBI36
NG_008462.1:g.54673A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.802A>G MANE Select	ENSP00000315680.3:p.Arg268Gly
ENST00000541292.6:c.*67A>G	ENSP00000441004.1:n.*67A>G
ENST00000678002.1:c.490A>G
ENST00000678557.1:c.688A>G	ENSP00000502962.1:p.Arg230Gly
ENST00000678593.1:c.807A>G	ENSP00000503841.1:n.807A>G
ENST00000679286.1:c.682A>G	ENSP00000503168.1:p.Arg228Gly
ENST00000318471.4:c.802A>G	ENSP00000315680.3:p.Arg268Gly
NM_000288.3:c.802A>G	NP_000279.1:p.Arg268Gly
XM_005267019.3:c.688A>G	XP_005267076.1:p.Arg230Gly
XM_006715502.1:c.508A>G	XP_006715565.1:p.Arg170Gly
XM_011535900.1:c.527-25890A>G	XP_011534202.1:n.527-25890A>G
XM_005267019.4:c.688A>G	XP_005267076.1:p.Arg230Gly
XM_006715502.2:c.508A>G	XP_006715565.1:p.Arg170Gly
XM_017010934.2:c.527-25890A>G	XP_016866423.1:n.527-25890A>G
NM_000288.4:c.802A>G MANE Select	NP_000279.1:p.Arg268Gly