Canonical Allele Identifier: CA365766748

Gene: PEX7

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.870T>G MANE Select	ENSP00000315680.3:p.Cys290Trp
ENST00000541292.6:c.*135T>G	ENSP00000441004.1:n.*135T>G
ENST00000678002.1:c.558T>G
ENST00000678557.1:c.756T>G	ENSP00000502962.1:p.Cys252Trp
ENST00000679286.1:c.750T>G	ENSP00000503168.1:p.Cys250Trp
ENST00000318471.4:c.870T>G	ENSP00000315680.3:p.Cys290Trp
NM_000288.3:c.870T>G	NP_000279.1:p.Cys290Trp
XM_005267019.3:c.756T>G	XP_005267076.1:p.Cys252Trp
XM_006715502.1:c.576T>G	XP_006715565.1:p.Cys192Trp
XM_011535900.1:c.593T>G	XP_011534202.1:p.Val198Gly
XM_005267019.4:c.756T>G	XP_005267076.1:p.Cys252Trp
XM_006715502.2:c.576T>G	XP_006715565.1:p.Cys192Trp
XM_017010934.2:c.593T>G	XP_016866423.1:p.Val198Gly
NM_000288.4:c.870T>G MANE Select	NP_000279.1:p.Cys290Trp