Canonical Allele Identifier: CA274207

Gene: PEX7

Linked Data

• ClinVar Variation Id: 188975
• ClinVar RCV Id: RCV000169353 ; RCV001068245 ; RCV003233479 ; RCV002485052
• dbSNP Id: rs267608254
• gnomAD v2: 6-137146410-G-C
• gnomAD v4: 6-136825272-G-C
• MyVariant Identifiers: chr6:g.137146410G>C (hg19) ; chr6:g.136825272G>C (hg38)
• PubMed: PMID:12325024

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136825272G>C , CM000668.2:g.136825272G>C	GRCh38
NC_000006.11:g.137146410G>C , CM000668.1:g.137146410G>C	GRCh37
NC_000006.10:g.137188103G>C	NCBI36
NG_008462.1:g.7693G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.188+1G>C MANE Select	ENSP00000315680.3:n.188+1G>C
ENST00000541292.6:c.188+1G>C	ENSP00000441004.1:n.188+1G>C
ENST00000678002.1:c.58+1G>C
ENST00000678557.1:c.74+1G>C	ENSP00000502962.1:n.74+1G>C
ENST00000678593.1:c.188+1G>C	ENSP00000503841.1:n.188+1G>C
ENST00000679286.1:c.68+1G>C	ENSP00000503168.1:n.68+1G>C
ENST00000318471.4:c.188+1G>C	ENSP00000315680.3:n.188+1G>C
ENST00000367756.8:c.188+1G>C	ENSP00000356730.4:n.188+1G>C
ENST00000541292.5:c.188+1G>C	ENSP00000441004.1:n.188+1G>C
NM_000288.3:c.188+1G>C	NP_000279.1:n.188+1G>C
XM_005267019.3:c.74+1G>C	XP_005267076.1:n.74+1G>C
XM_006715502.1:c.188+1G>C	XP_006715565.1:n.188+1G>C
XM_011535900.1:c.188+1G>C	XP_011534202.1:n.188+1G>C
XM_005267019.4:c.74+1G>C	XP_005267076.1:n.74+1G>C
XM_006715502.2:c.188+1G>C	XP_006715565.1:n.188+1G>C
XM_017010934.2:c.188+1G>C	XP_016866423.1:n.188+1G>C
NM_000288.4:c.188+1G>C MANE Select	NP_000279.1:n.188+1G>C