Canonical Allele Identifier: CA365766602

Gene: PEX7

Linked Data

• COSMIC: COSM3621007
• MyVariant Identifiers: chr6:g.137219309T>A (hg19) ; chr6:g.136898171T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898171T>A , CM000668.2:g.136898171T>A	GRCh38
NC_000006.11:g.137219309T>A , CM000668.1:g.137219309T>A	GRCh37
NC_000006.10:g.137261002T>A	NCBI36
NG_008462.1:g.80592T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.833T>A MANE Select	ENSP00000315680.3:p.Leu278His
ENST00000541292.6:c.*98T>A	ENSP00000441004.1:n.*98T>A
ENST00000678002.1:c.521T>A
ENST00000678557.1:c.719T>A	ENSP00000502962.1:p.Leu240His
ENST00000679286.1:c.713T>A	ENSP00000503168.1:p.Leu238His
ENST00000318471.4:c.833T>A	ENSP00000315680.3:p.Leu278His
NM_000288.3:c.833T>A	NP_000279.1:p.Leu278His
XM_005267019.3:c.719T>A	XP_005267076.1:p.Leu240His
XM_006715502.1:c.539T>A	XP_006715565.1:p.Leu180His
XM_011535900.1:c.556T>A	XP_011534202.1:p.Phe186Ile
XM_005267019.4:c.719T>A	XP_005267076.1:p.Leu240His
XM_006715502.2:c.539T>A	XP_006715565.1:p.Leu180His
XM_017010934.2:c.556T>A	XP_016866423.1:p.Phe186Ile
NM_000288.4:c.833T>A MANE Select	NP_000279.1:p.Leu278His