Canonical Allele Identifier: CA365766746

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219346T>A (hg19) ; chr6:g.136898208T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898208T>A , CM000668.2:g.136898208T>A	GRCh38
NC_000006.11:g.137219346T>A , CM000668.1:g.137219346T>A	GRCh37
NC_000006.10:g.137261039T>A	NCBI36
NG_008462.1:g.80629T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.870T>A MANE Select	ENSP00000315680.3:p.Cys290Ter
ENST00000541292.6:c.*135T>A	ENSP00000441004.1:n.*135T>A
ENST00000678002.1:c.558T>A
ENST00000678557.1:c.756T>A	ENSP00000502962.1:p.Cys252Ter
ENST00000679286.1:c.750T>A	ENSP00000503168.1:p.Cys250Ter
ENST00000318471.4:c.870T>A	ENSP00000315680.3:p.Cys290Ter
NM_000288.3:c.870T>A	NP_000279.1:p.Cys290Ter
XM_005267019.3:c.756T>A	XP_005267076.1:p.Cys252Ter
XM_006715502.1:c.576T>A	XP_006715565.1:p.Cys192Ter
XM_011535900.1:c.593T>A	XP_011534202.1:p.Val198Glu
XM_005267019.4:c.756T>A	XP_005267076.1:p.Cys252Ter
XM_006715502.2:c.576T>A	XP_006715565.1:p.Cys192Ter
XM_017010934.2:c.593T>A	XP_016866423.1:p.Val198Glu
NM_000288.4:c.870T>A MANE Select	NP_000279.1:p.Cys290Ter