Canonical Allele Identifier: CA365855091

Gene: PEX7

Linked Data

• ClinVar Variation Id: 2063358
• ClinVar RCV Id: RCV002948393
• dbSNP Id: rs1427240247
• gnomAD v2: 6-137143825-G-C
• gnomAD v4: 6-136822687-G-C
• MyVariant Identifiers: chr6:g.137143825G>C (hg19) ; chr6:g.136822687G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136822687G>C , CM000668.2:g.136822687G>C	GRCh38
NC_000006.11:g.137143825G>C , CM000668.1:g.137143825G>C	GRCh37
NC_000006.10:g.137185518G>C	NCBI36
NG_008462.1:g.5108G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.22G>C MANE Select	ENSP00000315680.3:p.Ala8Pro
ENST00000541292.6:c.22G>C	ENSP00000441004.1:p.Ala8Pro
ENST00000678593.1:c.22G>C	ENSP00000503841.1:p.Ala8Pro
ENST00000318471.4:c.22G>C	ENSP00000315680.3:p.Ala8Pro
ENST00000367756.8:c.22G>C	ENSP00000356730.4:p.Ala8Pro
ENST00000541292.5:c.22G>C	ENSP00000441004.1:p.Ala8Pro
NM_000288.3:c.22G>C	NP_000279.1:p.Ala8Pro
XM_006715502.1:c.22G>C	XP_006715565.1:p.Ala8Pro
XM_011535900.1:c.22G>C	XP_011534202.1:p.Ala8Pro
XM_006715502.2:c.22G>C	XP_006715565.1:p.Ala8Pro
XM_017010934.2:c.22G>C	XP_016866423.1:p.Ala8Pro
NM_000288.4:c.22G>C MANE Select	NP_000279.1:p.Ala8Pro