Canonical Allele Identifier: CA365855448

Gene: PEX7

Linked Data

• ClinVar Variation Id: 1008460
• ClinVar RCV Id: RCV001305803 ; RCV001835484
• dbSNP Id: rs1210968366
• gnomAD v2: 6-137143924-G-C
• gnomAD v3: 6-136822786-G-C
• gnomAD v4: 6-136822786-G-C
• MyVariant Identifiers: chr6:g.137143924G>C (hg19) ; chr6:g.136822786G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136822786G>C , CM000668.2:g.136822786G>C	GRCh38
NC_000006.11:g.137143924G>C , CM000668.1:g.137143924G>C	GRCh37
NC_000006.10:g.137185617G>C	NCBI36
NG_008462.1:g.5207G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.121G>C MANE Select	ENSP00000315680.3:p.Gly41Arg
ENST00000541292.6:c.121G>C	ENSP00000441004.1:p.Gly41Arg
ENST00000678593.1:c.121G>C	ENSP00000503841.1:p.Gly41Arg
ENST00000318471.4:c.121G>C	ENSP00000315680.3:p.Gly41Arg
ENST00000367756.8:c.121G>C	ENSP00000356730.4:p.Gly41Arg
ENST00000541292.5:c.121G>C	ENSP00000441004.1:p.Gly41Arg
NM_000288.3:c.121G>C	NP_000279.1:p.Gly41Arg
XM_006715502.1:c.121G>C	XP_006715565.1:p.Gly41Arg
XM_011535900.1:c.121G>C	XP_011534202.1:p.Gly41Arg
XM_006715502.2:c.121G>C	XP_006715565.1:p.Gly41Arg
XM_017010934.2:c.121G>C	XP_016866423.1:p.Gly41Arg
NM_000288.4:c.121G>C MANE Select	NP_000279.1:p.Gly41Arg