Canonical Allele Identifier: CA365766706

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219336A>T (hg19) ; chr6:g.136898198A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898198A>T , CM000668.2:g.136898198A>T	GRCh38
NC_000006.11:g.137219336A>T , CM000668.1:g.137219336A>T	GRCh37
NC_000006.10:g.137261029A>T	NCBI36
NG_008462.1:g.80619A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.860A>T MANE Select	ENSP00000315680.3:p.Glu287Val
ENST00000541292.6:c.*125A>T	ENSP00000441004.1:n.*125A>T
ENST00000678002.1:c.548A>T
ENST00000678557.1:c.746A>T	ENSP00000502962.1:p.Glu249Val
ENST00000679286.1:c.740A>T	ENSP00000503168.1:p.Glu247Val
ENST00000318471.4:c.860A>T	ENSP00000315680.3:p.Glu287Val
NM_000288.3:c.860A>T	NP_000279.1:p.Glu287Val
XM_005267019.3:c.746A>T	XP_005267076.1:p.Glu249Val
XM_006715502.1:c.566A>T	XP_006715565.1:p.Glu189Val
XM_011535900.1:c.583A>T	XP_011534202.1:p.Ser195Cys
XM_005267019.4:c.746A>T	XP_005267076.1:p.Glu249Val
XM_006715502.2:c.566A>T	XP_006715565.1:p.Glu189Val
XM_017010934.2:c.583A>T	XP_016866423.1:p.Ser195Cys
NM_000288.4:c.860A>T MANE Select	NP_000279.1:p.Glu287Val