Canonical Allele Identifier: CA365766781

Gene: PEX7

Linked Data

• ClinVar Variation Id: 1717525
• ClinVar RCV Id: RCV002296426
• gnomAD v4: 6-136898217-C-A
• MyVariant Identifiers: chr6:g.137219355C>A (hg19) ; chr6:g.136898217C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898217C>A , CM000668.2:g.136898217C>A	GRCh38
NC_000006.11:g.137219355C>A , CM000668.1:g.137219355C>A	GRCh37
NC_000006.10:g.137261048C>A	NCBI36
NG_008462.1:g.80638C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.879C>A MANE Select	ENSP00000315680.3:p.Asp293Glu
ENST00000541292.6:c.*144C>A	ENSP00000441004.1:n.*144C>A
ENST00000678002.1:c.567C>A
ENST00000678557.1:c.765C>A	ENSP00000502962.1:p.Asp255Glu
ENST00000679286.1:c.759C>A	ENSP00000503168.1:p.Asp253Glu
ENST00000318471.4:c.879C>A	ENSP00000315680.3:p.Asp293Glu
NM_000288.3:c.879C>A	NP_000279.1:p.Asp293Glu
XM_005267019.3:c.765C>A	XP_005267076.1:p.Asp255Glu
XM_006715502.1:c.585C>A	XP_006715565.1:p.Asp195Glu
XM_011535900.1:c.*2C>A	XP_011534202.1:n.*2C>A
XM_005267019.4:c.765C>A	XP_005267076.1:p.Asp255Glu
XM_006715502.2:c.585C>A	XP_006715565.1:p.Asp195Glu
XM_017010934.2:c.*2C>A	XP_016866423.1:n.*2C>A
NM_000288.4:c.879C>A MANE Select	NP_000279.1:p.Asp293Glu