Canonical Allele Identifier: CA365766739

Gene: PEX7

Linked Data

• gnomAD v4: 6-136898206-T-G
• MyVariant Identifiers: chr6:g.137219344T>G (hg19) ; chr6:g.136898206T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898206T>G , CM000668.2:g.136898206T>G	GRCh38
NC_000006.11:g.137219344T>G , CM000668.1:g.137219344T>G	GRCh37
NC_000006.10:g.137261037T>G	NCBI36
NG_008462.1:g.80627T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.868T>G MANE Select	ENSP00000315680.3:p.Cys290Gly
ENST00000541292.6:c.*133T>G	ENSP00000441004.1:n.*133T>G
ENST00000678002.1:c.556T>G
ENST00000678557.1:c.754T>G	ENSP00000502962.1:p.Cys252Gly
ENST00000679286.1:c.748T>G	ENSP00000503168.1:p.Cys250Gly
ENST00000318471.4:c.868T>G	ENSP00000315680.3:p.Cys290Gly
NM_000288.3:c.868T>G	NP_000279.1:p.Cys290Gly
XM_005267019.3:c.754T>G	XP_005267076.1:p.Cys252Gly
XM_006715502.1:c.574T>G	XP_006715565.1:p.Cys192Gly
XM_011535900.1:c.591T>G	XP_011534202.1:p.Leu197=
XM_005267019.4:c.754T>G	XP_005267076.1:p.Cys252Gly
XM_006715502.2:c.574T>G	XP_006715565.1:p.Cys192Gly
XM_017010934.2:c.591T>G	XP_016866423.1:p.Leu197=
NM_000288.4:c.868T>G MANE Select	NP_000279.1:p.Cys290Gly