Canonical Allele Identifier: CA4017638

Gene: PEX7

Linked Data

• ClinVar Variation Id: 511484
• ClinVar RCV Id: RCV000605976 ; RCV001511413
• dbSNP Id: rs73777756
• ExAC: 6:137167333 T / C
• gnomAD v2: 6-137167333-T-C
• gnomAD v3: 6-136846195-T-C
• gnomAD v4: 6-136846195-T-C
• MyVariant Identifiers: chr6:g.137167333T>C (hg19) ; chr6:g.136846195T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136846195T>C , CM000668.2:g.136846195T>C	GRCh38
NC_000006.11:g.137167333T>C , CM000668.1:g.137167333T>C	GRCh37
NC_000006.10:g.137209026T>C	NCBI36
NG_008462.1:g.28616T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.526+14T>C MANE Select	ENSP00000315680.3:n.526+14T>C
ENST00000541292.6:c.526+14T>C	ENSP00000441004.1:n.526+14T>C
ENST00000678002.1:c.214+19726T>C
ENST00000678557.1:c.412+14T>C	ENSP00000502962.1:n.412+14T>C
ENST00000678593.1:c.531+14T>C	ENSP00000503841.1:n.531+14T>C
ENST00000679286.1:c.406+14T>C	ENSP00000503168.1:n.406+14T>C
ENST00000318471.4:c.526+14T>C	ENSP00000315680.3:n.526+14T>C
ENST00000541292.5:c.526+14T>C	ENSP00000441004.1:n.526+14T>C
NM_000288.3:c.526+14T>C	NP_000279.1:n.526+14T>C
XM_005267019.3:c.412+14T>C	XP_005267076.1:n.412+14T>C
XM_006715502.1:c.339+19726T>C	XP_006715565.1:n.339+19726T>C
XM_011535900.1:c.526+14T>C	XP_011534202.1:n.526+14T>C
XM_005267019.4:c.412+14T>C	XP_005267076.1:n.412+14T>C
XM_006715502.2:c.339+19726T>C	XP_006715565.1:n.339+19726T>C
XM_017010934.2:c.526+14T>C	XP_016866423.1:n.526+14T>C
NM_000288.4:c.526+14T>C MANE Select	NP_000279.1:n.526+14T>C