Canonical Allele Identifier: CA365766872

Gene: PEX7

Linked Data

• gnomAD v4: 6-136898240-A-G
• MyVariant Identifiers: chr6:g.137219378A>G (hg19) ; chr6:g.136898240A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898240A>G , CM000668.2:g.136898240A>G	GRCh38
NC_000006.11:g.137219378A>G , CM000668.1:g.137219378A>G	GRCh37
NC_000006.10:g.137261071A>G	NCBI36
NG_008462.1:g.80661A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.902A>G MANE Select	ENSP00000315680.3:p.Gln301Arg
ENST00000541292.6:c.*167A>G	ENSP00000441004.1:n.*167A>G
ENST00000678002.1:c.590A>G
ENST00000678557.1:c.788A>G	ENSP00000502962.1:p.Gln263Arg
ENST00000679286.1:c.782A>G	ENSP00000503168.1:p.Gln261Arg
ENST00000318471.4:c.902A>G	ENSP00000315680.3:p.Gln301Arg
NM_000288.3:c.902A>G	NP_000279.1:p.Gln301Arg
XM_005267019.3:c.788A>G	XP_005267076.1:p.Gln263Arg
XM_006715502.1:c.608A>G	XP_006715565.1:p.Gln203Arg
XM_005267019.4:c.788A>G	XP_005267076.1:p.Gln263Arg
XM_006715502.2:c.608A>G	XP_006715565.1:p.Gln203Arg
XM_017010934.2:c.*25A>G	XP_016866423.1:n.*25A>G
NM_000288.4:c.902A>G MANE Select	NP_000279.1:p.Gln301Arg