Canonical Allele Identifier: CA365766864

Gene: PEX7

Linked Data

• gnomAD v4: 6-136898237-C-A
• MyVariant Identifiers: chr6:g.137219375C>A (hg19) ; chr6:g.136898237C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898237C>A , CM000668.2:g.136898237C>A	GRCh38
NC_000006.11:g.137219375C>A , CM000668.1:g.137219375C>A	GRCh37
NC_000006.10:g.137261068C>A	NCBI36
NG_008462.1:g.80658C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.899C>A MANE Select	ENSP00000315680.3:p.Thr300Asn
ENST00000541292.6:c.*164C>A	ENSP00000441004.1:n.*164C>A
ENST00000678002.1:c.587C>A
ENST00000678557.1:c.785C>A	ENSP00000502962.1:p.Thr262Asn
ENST00000679286.1:c.779C>A	ENSP00000503168.1:p.Thr260Asn
ENST00000318471.4:c.899C>A	ENSP00000315680.3:p.Thr300Asn
NM_000288.3:c.899C>A	NP_000279.1:p.Thr300Asn
XM_005267019.3:c.785C>A	XP_005267076.1:p.Thr262Asn
XM_006715502.1:c.605C>A	XP_006715565.1:p.Thr202Asn
XM_005267019.4:c.785C>A	XP_005267076.1:p.Thr262Asn
XM_006715502.2:c.605C>A	XP_006715565.1:p.Thr202Asn
XM_017010934.2:c.*22C>A	XP_016866423.1:n.*22C>A
NM_000288.4:c.899C>A MANE Select	NP_000279.1:p.Thr300Asn