Canonical Allele Identifier: CA340698
Gene: PEX7 HGNC NCBI

Linked Data

ClinVar Variation Id: 7780
dbSNP Id: rs1805137

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136898213T>A , CM000668.2:g.136898213T>A GRCh38
NC_000006.11:g.137219351T>A , CM000668.1:g.137219351T>A GRCh37
NC_000006.10:g.137261044T>A NCBI36
NG_008462.1:g.80634T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000318471.5:c.875T>A MANE Select ENSP00000315680.3:p.Leu292Ter
ENST00000541292.6:c.*140T>A ENSP00000441004.1:n.*140T>A
ENST00000678002.1:c.563T>A
ENST00000678557.1:c.761T>A ENSP00000502962.1:p.Leu254Ter
ENST00000679286.1:c.755T>A ENSP00000503168.1:p.Leu252Ter
ENST00000318471.4:c.875T>A ENSP00000315680.3:p.Leu292Ter
NM_000288.3:c.875T>A NP_000279.1:p.Leu292Ter
XM_005267019.3:c.761T>A XP_005267076.1:p.Leu254Ter
XM_006715502.1:c.581T>A XP_006715565.1:p.Leu194Ter
XM_011535900.1:c.598T>A XP_011534202.1:p.Ter200Lys
XM_005267019.4:c.761T>A XP_005267076.1:p.Leu254Ter
XM_006715502.2:c.581T>A XP_006715565.1:p.Leu194Ter
XM_017010934.2:c.598T>A XP_016866423.1:p.Ter200Lys
NM_000288.4:c.875T>A MANE Select NP_000279.1:p.Leu292Ter