Canonical Allele Identifier: CA365762801

Gene: PEX7

Linked Data

• ClinVar Variation Id: 2121830
• ClinVar RCV Id: RCV003049355
• gnomAD v4: 6-136866632-C-A
• MyVariant Identifiers: chr6:g.137187770C>A (hg19) ; chr6:g.136866632C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136866632C>A , CM000668.2:g.136866632C>A	GRCh38
NC_000006.11:g.137187770C>A , CM000668.1:g.137187770C>A	GRCh37
NC_000006.10:g.137229463C>A	NCBI36
NG_008462.1:g.49053C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.532C>A MANE Select	ENSP00000315680.3:p.Gln178Lys
ENST00000541292.6:c.532C>A	ENSP00000441004.1:p.Gln178Lys
ENST00000678002.1:c.220C>A
ENST00000678557.1:c.418C>A	ENSP00000502962.1:p.Gln140Lys
ENST00000678593.1:c.537C>A	ENSP00000503841.1:n.537C>A
ENST00000679286.1:c.412C>A	ENSP00000503168.1:p.Gln138Lys
ENST00000318471.4:c.532C>A	ENSP00000315680.3:p.Gln178Lys
ENST00000541292.5:c.532C>A	ENSP00000441004.1:p.Gln178Lys
NM_000288.3:c.532C>A	NP_000279.1:p.Gln178Lys
XM_005267019.3:c.418C>A	XP_005267076.1:p.Gln140Lys
XM_006715502.1:c.340-3258C>A	XP_006715565.1:n.340-3258C>A
XM_011535900.1:c.526+20451C>A	XP_011534202.1:n.526+20451C>A
XM_005267019.4:c.418C>A	XP_005267076.1:p.Gln140Lys
XM_006715502.2:c.340-3258C>A	XP_006715565.1:n.340-3258C>A
XM_017010934.2:c.526+20451C>A	XP_016866423.1:n.526+20451C>A
NM_000288.4:c.532C>A MANE Select	NP_000279.1:p.Gln178Lys