Canonical Allele Identifier: CA365762844

Gene: PEX7

Linked Data

• ClinVar Variation Id: 2677725
• ClinVar RCV Id: RCV003476859
• dbSNP Id: rs753283873
• gnomAD v2: 6-137187787-G-A
• gnomAD v4: 6-136866649-G-A
• MyVariant Identifiers: chr6:g.137187787G>A (hg19) ; chr6:g.136866649G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136866649G>A , CM000668.2:g.136866649G>A	GRCh38
NC_000006.11:g.137187787G>A , CM000668.1:g.137187787G>A	GRCh37
NC_000006.10:g.137229480G>A	NCBI36
NG_008462.1:g.49070G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.549G>A MANE Select	ENSP00000315680.3:p.Trp183Ter
ENST00000541292.6:c.549G>A	ENSP00000441004.1:p.Trp183Ter
ENST00000678002.1:c.237G>A
ENST00000678557.1:c.435G>A	ENSP00000502962.1:p.Trp145Ter
ENST00000678593.1:c.554G>A	ENSP00000503841.1:n.554G>A
ENST00000679286.1:c.429G>A	ENSP00000503168.1:p.Trp143Ter
ENST00000318471.4:c.549G>A	ENSP00000315680.3:p.Trp183Ter
ENST00000541292.5:c.549G>A	ENSP00000441004.1:p.Trp183Ter
NM_000288.3:c.549G>A	NP_000279.1:p.Trp183Ter
XM_005267019.3:c.435G>A	XP_005267076.1:p.Trp145Ter
XM_006715502.1:c.340-3241G>A	XP_006715565.1:n.340-3241G>A
XM_011535900.1:c.526+20468G>A	XP_011534202.1:n.526+20468G>A
XM_005267019.4:c.435G>A	XP_005267076.1:p.Trp145Ter
XM_006715502.2:c.340-3241G>A	XP_006715565.1:n.340-3241G>A
XM_017010934.2:c.526+20468G>A	XP_016866423.1:n.526+20468G>A
NM_000288.4:c.549G>A MANE Select	NP_000279.1:p.Trp183Ter