Canonical Allele Identifier: CA340702
Gene: PEX7 HGNC NCBI

Linked Data

ClinVar Variation Id: 7785
dbSNP Id: rs148591292

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.136898242G>C , CM000668.2:g.136898242G>C GRCh38
NC_000006.11:g.137219380G>C , CM000668.1:g.137219380G>C GRCh37
NC_000006.10:g.137261073G>C NCBI36
NG_008462.1:g.80663G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000318471.5:c.903+1G>C MANE Select ENSP00000315680.3:n.903+1G>C
ENST00000541292.6:c.*168+1G>C ENSP00000441004.1:n.*168+1G>C
ENST00000678002.1:c.591+1G>C
ENST00000678557.1:c.789+1G>C ENSP00000502962.1:n.789+1G>C
ENST00000679286.1:c.783+1G>C ENSP00000503168.1:n.783+1G>C
ENST00000318471.4:c.903+1G>C ENSP00000315680.3:n.903+1G>C
NM_000288.3:c.903+1G>C NP_000279.1:n.903+1G>C
XM_005267019.3:c.789+1G>C XP_005267076.1:n.789+1G>C
XM_006715502.1:c.609+1G>C XP_006715565.1:n.609+1G>C
XM_005267019.4:c.789+1G>C XP_005267076.1:n.789+1G>C
XM_006715502.2:c.609+1G>C XP_006715565.1:n.609+1G>C
XM_017010934.2:c.*26+1G>C XP_016866423.1:n.*26+1G>C
NM_000288.4:c.903+1G>C MANE Select NP_000279.1:n.903+1G>C