Canonical Allele Identifier: CA4017555

Gene: PEX7

Linked Data

• ClinVar Variation Id: 2049548
• ClinVar RCV Id: RCV002914069
• dbSNP Id: rs778763416
• ExAC: 6:137147603 A / G
• gnomAD v2: 6-137147603-A-G
• gnomAD v3: 6-136826465-A-G
• gnomAD v4: 6-136826465-A-G
• MyVariant Identifiers: chr6:g.137147603A>G (hg19) ; chr6:g.136826465A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826465A>G , CM000668.2:g.136826465A>G	GRCh38
NC_000006.11:g.137147603A>G , CM000668.1:g.137147603A>G	GRCh37
NC_000006.10:g.137189296A>G	NCBI36
NG_008462.1:g.8886A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.335A>G MANE Select	ENSP00000315680.3:p.Gln112Arg
ENST00000541292.6:c.335A>G	ENSP00000441004.1:p.Gln112Arg
ENST00000678002.1:c.210A>G
ENST00000678557.1:c.221A>G	ENSP00000502962.1:p.Gln74Arg
ENST00000678593.1:c.340A>G	ENSP00000503841.1:n.340A>G
ENST00000679286.1:c.215A>G	ENSP00000503168.1:p.Gln72Arg
ENST00000318471.4:c.335A>G	ENSP00000315680.3:p.Gln112Arg
ENST00000367756.8:c.335A>G	ENSP00000356730.4:p.Gln112Arg
ENST00000541292.5:c.335A>G	ENSP00000441004.1:p.Gln112Arg
NM_000288.3:c.335A>G	NP_000279.1:p.Gln112Arg
XM_005267019.3:c.221A>G	XP_005267076.1:p.Gln74Arg
XM_006715502.1:c.335A>G	XP_006715565.1:p.Gln112Arg
XM_011535900.1:c.335A>G	XP_011534202.1:p.Gln112Arg
XM_005267019.4:c.221A>G	XP_005267076.1:p.Gln74Arg
XM_006715502.2:c.335A>G	XP_006715565.1:p.Gln112Arg
XM_017010934.2:c.335A>G	XP_016866423.1:p.Gln112Arg
NM_000288.4:c.335A>G MANE Select	NP_000279.1:p.Gln112Arg