Canonical Allele Identifier: CA10623037

Gene: PEX7

Linked Data

• ClinVar Variation Id: 355527
• ClinVar RCV Id: RCV000279742 ; RCV000378803
• dbSNP Id: rs886061119
• gnomAD v3: 6-136822806-G-T
• gnomAD v4: 6-136822806-G-T
• MyVariant Identifiers: chr6:g.137143944G>T (hg19) ; chr6:g.136822806G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136822806G>T , CM000668.2:g.136822806G>T	GRCh38
NC_000006.11:g.137143944G>T , CM000668.1:g.137143944G>T	GRCh37
NC_000006.10:g.137185637G>T	NCBI36
NG_008462.1:g.5227G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.130+11G>T MANE Select	ENSP00000315680.3:n.130+11G>T
ENST00000541292.6:c.130+11G>T	ENSP00000441004.1:n.130+11G>T
ENST00000678593.1:c.130+11G>T	ENSP00000503841.1:n.130+11G>T
ENST00000318471.4:c.130+11G>T	ENSP00000315680.3:n.130+11G>T
ENST00000367756.8:c.130+11G>T	ENSP00000356730.4:n.130+11G>T
ENST00000541292.5:c.130+11G>T	ENSP00000441004.1:n.130+11G>T
NM_000288.3:c.130+11G>T	NP_000279.1:n.130+11G>T
XM_006715502.1:c.130+11G>T	XP_006715565.1:n.130+11G>T
XM_011535900.1:c.130+11G>T	XP_011534202.1:n.130+11G>T
XM_006715502.2:c.130+11G>T	XP_006715565.1:n.130+11G>T
XM_017010934.2:c.130+11G>T	XP_016866423.1:n.130+11G>T
NM_000288.4:c.130+11G>T MANE Select	NP_000279.1:n.130+11G>T