Canonical Allele Identifier: CA340700

Gene: PEX7

Linked Data

• ClinVar Variation Id: 7782
• ClinVar RCV Id: RCV000008224 ; RCV000454287 ; RCV001509294 ; RCV001831556 ; RCV002512897
• dbSNP Id: rs121909152
• ExAC: 6:137191043 G / A
• gnomAD v2: 6-137191043-G-A
• gnomAD v3: 6-136869905-G-A
• gnomAD v4: 6-136869905-G-A
• COSMIC: COSM1496196
• MyVariant Identifiers: chr6:g.137191043G>A (hg19) ; chr6:g.136869905G>A (hg38)
• PubMed: PMID:9090381 ; PMID:11756410 ; PMID:11781871 ; PMID:12325024 ; PMID:20301447 ; PMID:23572185

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136869905G>A , CM000668.2:g.136869905G>A	GRCh38
NC_000006.11:g.137191043G>A , CM000668.1:g.137191043G>A	GRCh37
NC_000006.10:g.137232736G>A	NCBI36
NG_008462.1:g.52326G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.649G>A MANE Select	ENSP00000315680.3:p.Gly217Arg
ENST00000541292.6:c.649G>A	ENSP00000441004.1:p.Gly217Arg
ENST00000678002.1:c.337G>A
ENST00000678557.1:c.535G>A	ENSP00000502962.1:p.Gly179Arg
ENST00000678593.1:c.654G>A	ENSP00000503841.1:n.654G>A
ENST00000679286.1:c.529G>A	ENSP00000503168.1:p.Gly177Arg
ENST00000318471.4:c.649G>A	ENSP00000315680.3:p.Gly217Arg
ENST00000541292.5:c.649G>A	ENSP00000441004.1:p.Gly217Arg
NM_000288.3:c.649G>A	NP_000279.1:p.Gly217Arg
XM_005267019.3:c.535G>A	XP_005267076.1:p.Gly179Arg
XM_006715502.1:c.355G>A	XP_006715565.1:p.Gly119Arg
XM_011535900.1:c.526+23724G>A	XP_011534202.1:n.526+23724G>A
XM_005267019.4:c.535G>A	XP_005267076.1:p.Gly179Arg
XM_006715502.2:c.355G>A	XP_006715565.1:p.Gly119Arg
XM_017010934.2:c.526+23724G>A	XP_016866423.1:n.526+23724G>A
NM_000288.4:c.649G>A MANE Select	NP_000279.1:p.Gly217Arg