Canonical Allele Identifier: CA365766839

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219369G>T (hg19) ; chr6:g.136898231G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898231G>T , CM000668.2:g.136898231G>T	GRCh38
NC_000006.11:g.137219369G>T , CM000668.1:g.137219369G>T	GRCh37
NC_000006.10:g.137261062G>T	NCBI36
NG_008462.1:g.80652G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.893G>T MANE Select	ENSP00000315680.3:p.Ser298Ile
ENST00000541292.6:c.*158G>T	ENSP00000441004.1:n.*158G>T
ENST00000678002.1:c.581G>T
ENST00000678557.1:c.779G>T	ENSP00000502962.1:p.Ser260Ile
ENST00000679286.1:c.773G>T	ENSP00000503168.1:p.Ser258Ile
ENST00000318471.4:c.893G>T	ENSP00000315680.3:p.Ser298Ile
NM_000288.3:c.893G>T	NP_000279.1:p.Ser298Ile
XM_005267019.3:c.779G>T	XP_005267076.1:p.Ser260Ile
XM_006715502.1:c.599G>T	XP_006715565.1:p.Ser200Ile
XM_005267019.4:c.779G>T	XP_005267076.1:p.Ser260Ile
XM_006715502.2:c.599G>T	XP_006715565.1:p.Ser200Ile
XM_017010934.2:c.*16G>T	XP_016866423.1:n.*16G>T
NM_000288.4:c.893G>T MANE Select	NP_000279.1:p.Ser298Ile