Canonical Allele Identifier: CA4017776

Gene: PEX7

Linked Data

• ClinVar Variation Id: 2881412
• ClinVar RCV Id: RCV003649868
• dbSNP Id: rs187350234
• ExAC: 6:137219266 A / G
• gnomAD v2: 6-137219266-A-G
• gnomAD v3: 6-136898128-A-G
• gnomAD v4: 6-136898128-A-G
• MyVariant Identifiers: chr6:g.137219266A>G (hg19) ; chr6:g.136898128A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898128A>G , CM000668.2:g.136898128A>G	GRCh38
NC_000006.11:g.137219266A>G , CM000668.1:g.137219266A>G	GRCh37
NC_000006.10:g.137260959A>G	NCBI36
NG_008462.1:g.80549A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.804-14A>G MANE Select	ENSP00000315680.3:n.804-14A>G
ENST00000541292.6:c.*69-14A>G	ENSP00000441004.1:n.*69-14A>G
ENST00000678002.1:c.492-14A>G
ENST00000678557.1:c.690-14A>G	ENSP00000502962.1:n.690-14A>G
ENST00000679286.1:c.684-14A>G	ENSP00000503168.1:n.684-14A>G
ENST00000318471.4:c.804-14A>G	ENSP00000315680.3:n.804-14A>G
NM_000288.3:c.804-14A>G	NP_000279.1:n.804-14A>G
XM_005267019.3:c.690-14A>G	XP_005267076.1:n.690-14A>G
XM_006715502.1:c.510-14A>G	XP_006715565.1:n.510-14A>G
XM_011535900.1:c.527-14A>G	XP_011534202.1:n.527-14A>G
XM_005267019.4:c.690-14A>G	XP_005267076.1:n.690-14A>G
XM_006715502.2:c.510-14A>G	XP_006715565.1:n.510-14A>G
XM_017010934.2:c.527-14A>G	XP_016866423.1:n.527-14A>G
NM_000288.4:c.804-14A>G MANE Select	NP_000279.1:n.804-14A>G