Canonical Allele Identifier: CA452228803

Gene: PEX7

Linked Data

• ClinVar Variation Id: 1646038
• ClinVar RCV Id: RCV002136285 ; RCV004531498
• dbSNP Id: rs1173582316
• gnomAD v3: 6-136872248-T-C
• gnomAD v4: 6-136872248-T-C
• MyVariant Identifiers: chr6:g.137193386T>C (hg19) ; chr6:g.136872248T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872248T>C , CM000668.2:g.136872248T>C	GRCh38
NC_000006.11:g.137193386T>C , CM000668.1:g.137193386T>C	GRCh37
NC_000006.10:g.137235079T>C	NCBI36
NG_008462.1:g.54669T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.798T>C MANE Select	ENSP00000315680.3:p.Thr266=
ENST00000541292.6:c.*63T>C	ENSP00000441004.1:n.*63T>C
ENST00000678002.1:c.486T>C
ENST00000678557.1:c.684T>C	ENSP00000502962.1:p.Thr228=
ENST00000678593.1:c.803T>C	ENSP00000503841.1:n.803T>C
ENST00000679286.1:c.678T>C	ENSP00000503168.1:p.Thr226=
ENST00000318471.4:c.798T>C	ENSP00000315680.3:p.Thr266=
NM_000288.3:c.798T>C	NP_000279.1:p.Thr266=
XM_005267019.3:c.684T>C	XP_005267076.1:p.Thr228=
XM_006715502.1:c.504T>C	XP_006715565.1:p.Thr168=
XM_011535900.1:c.527-25894T>C	XP_011534202.1:n.527-25894T>C
XM_005267019.4:c.684T>C	XP_005267076.1:p.Thr228=
XM_006715502.2:c.504T>C	XP_006715565.1:p.Thr168=
XM_017010934.2:c.527-25894T>C	XP_016866423.1:n.527-25894T>C
NM_000288.4:c.798T>C MANE Select	NP_000279.1:p.Thr266=