Canonical Allele Identifier: CA365766741

Gene: PEX7

Linked Data

• dbSNP Id: rs1236992966
• gnomAD v2: 6-137219345-G-A
• MyVariant Identifiers: chr6:g.137219345G>A (hg19) ; chr6:g.136898207G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898207G>A , CM000668.2:g.136898207G>A	GRCh38
NC_000006.11:g.137219345G>A , CM000668.1:g.137219345G>A	GRCh37
NC_000006.10:g.137261038G>A	NCBI36
NG_008462.1:g.80628G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.869G>A MANE Select	ENSP00000315680.3:p.Cys290Tyr
ENST00000541292.6:c.*134G>A	ENSP00000441004.1:n.*134G>A
ENST00000678002.1:c.557G>A
ENST00000678557.1:c.755G>A	ENSP00000502962.1:p.Cys252Tyr
ENST00000679286.1:c.749G>A	ENSP00000503168.1:p.Cys250Tyr
ENST00000318471.4:c.869G>A	ENSP00000315680.3:p.Cys290Tyr
NM_000288.3:c.869G>A	NP_000279.1:p.Cys290Tyr
XM_005267019.3:c.755G>A	XP_005267076.1:p.Cys252Tyr
XM_006715502.1:c.575G>A	XP_006715565.1:p.Cys192Tyr
XM_011535900.1:c.592G>A	XP_011534202.1:p.Val198Met
XM_005267019.4:c.755G>A	XP_005267076.1:p.Cys252Tyr
XM_006715502.2:c.575G>A	XP_006715565.1:p.Cys192Tyr
XM_017010934.2:c.592G>A	XP_016866423.1:p.Val198Met
NM_000288.4:c.869G>A MANE Select	NP_000279.1:p.Cys290Tyr