Canonical Allele Identifier: CA365763058

Gene: PEX7

Linked Data

• dbSNP Id: rs1360681615
• gnomAD v2: 6-137187836-G-A
• gnomAD v4: 6-136866698-G-A
• MyVariant Identifiers: chr6:g.137187836G>A (hg19) ; chr6:g.136866698G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136866698G>A , CM000668.2:g.136866698G>A	GRCh38
NC_000006.11:g.137187836G>A , CM000668.1:g.137187836G>A	GRCh37
NC_000006.10:g.137229529G>A	NCBI36
NG_008462.1:g.49119G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.598G>A MANE Select	ENSP00000315680.3:p.Glu200Lys
ENST00000541292.6:c.598G>A	ENSP00000441004.1:p.Glu200Lys
ENST00000678002.1:c.286G>A
ENST00000678557.1:c.484G>A	ENSP00000502962.1:p.Glu162Lys
ENST00000678593.1:c.603G>A	ENSP00000503841.1:n.603G>A
ENST00000679286.1:c.478G>A	ENSP00000503168.1:p.Glu160Lys
ENST00000318471.4:c.598G>A	ENSP00000315680.3:p.Glu200Lys
ENST00000541292.5:c.598G>A	ENSP00000441004.1:p.Glu200Lys
NM_000288.3:c.598G>A	NP_000279.1:p.Glu200Lys
XM_005267019.3:c.484G>A	XP_005267076.1:p.Glu162Lys
XM_006715502.1:c.340-3192G>A	XP_006715565.1:n.340-3192G>A
XM_011535900.1:c.526+20517G>A	XP_011534202.1:n.526+20517G>A
XM_005267019.4:c.484G>A	XP_005267076.1:p.Glu162Lys
XM_006715502.2:c.340-3192G>A	XP_006715565.1:n.340-3192G>A
XM_017010934.2:c.526+20517G>A	XP_016866423.1:n.526+20517G>A
NM_000288.4:c.598G>A MANE Select	NP_000279.1:p.Glu200Lys