Canonical Allele Identifier: CA365766530

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219284T>A (hg19) ; chr6:g.136898146T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898146T>A , CM000668.2:g.136898146T>A	GRCh38
NC_000006.11:g.137219284T>A , CM000668.1:g.137219284T>A	GRCh37
NC_000006.10:g.137260977T>A	NCBI36
NG_008462.1:g.80567T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.808T>A MANE Select	ENSP00000315680.3:p.Trp270Arg
ENST00000541292.6:c.*73T>A	ENSP00000441004.1:n.*73T>A
ENST00000678002.1:c.496T>A
ENST00000678557.1:c.694T>A	ENSP00000502962.1:p.Trp232Arg
ENST00000679286.1:c.688T>A	ENSP00000503168.1:p.Trp230Arg
ENST00000318471.4:c.808T>A	ENSP00000315680.3:p.Trp270Arg
NM_000288.3:c.808T>A	NP_000279.1:p.Trp270Arg
XM_005267019.3:c.694T>A	XP_005267076.1:p.Trp232Arg
XM_006715502.1:c.514T>A	XP_006715565.1:p.Trp172Arg
XM_011535900.1:c.531T>A	XP_011534202.1:p.Ser177=
XM_005267019.4:c.694T>A	XP_005267076.1:p.Trp232Arg
XM_006715502.2:c.514T>A	XP_006715565.1:p.Trp172Arg
XM_017010934.2:c.531T>A	XP_016866423.1:p.Ser177=
NM_000288.4:c.808T>A MANE Select	NP_000279.1:p.Trp270Arg