Canonical Allele Identifier: CA452231774

Gene: PEX7

Linked Data

• gnomAD v4: 6-136898145-C-T
• MyVariant Identifiers: chr6:g.137219283C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898145C>T , CM000668.2:g.136898145C>T	GRCh38
NC_000006.11:g.137219283C>T , CM000668.1:g.137219283C>T	GRCh37
NC_000006.10:g.137260976C>T	NCBI36
NG_008462.1:g.80566C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.807C>T MANE Select	ENSP00000315680.3:p.Phe269=
ENST00000541292.6:c.*72C>T	ENSP00000441004.1:n.*72C>T
ENST00000678002.1:c.495C>T
ENST00000678557.1:c.693C>T	ENSP00000502962.1:p.Phe231=
ENST00000679286.1:c.687C>T	ENSP00000503168.1:p.Phe229=
ENST00000318471.4:c.807C>T	ENSP00000315680.3:p.Phe269=
NM_000288.3:c.807C>T	NP_000279.1:p.Phe269=
XM_005267019.3:c.693C>T	XP_005267076.1:p.Phe231=
XM_006715502.1:c.513C>T	XP_006715565.1:p.Phe171=
XM_011535900.1:c.530C>T	XP_011534202.1:p.Ser177Phe
XM_005267019.4:c.693C>T	XP_005267076.1:p.Phe231=
XM_006715502.2:c.513C>T	XP_006715565.1:p.Phe171=
XM_017010934.2:c.530C>T	XP_016866423.1:p.Ser177Phe
NM_000288.4:c.807C>T MANE Select	NP_000279.1:p.Phe269=