Canonical Allele Identifier: CA119072

Gene: PEX7

Linked Data

• ClinVar Variation Id: 7786
• ClinVar RCV Id: RCV000008228 ; RCV000411170 ; RCV001826453
• dbSNP Id: rs121909154
• ExAC: 6:137166758 T / G
• gnomAD v2: 6-137166758-T-G
• gnomAD v3: 6-136845620-T-G
• gnomAD v4: 6-136845620-T-G
• MyVariant Identifiers: chr6:g.137166758T>G (hg19) ; chr6:g.136845620T>G (hg38)
• PubMed: PMID:11781871 ; PMID:12325024 ; PMID:17325280

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136845620T>G , CM000668.2:g.136845620T>G	GRCh38
NC_000006.11:g.137166758T>G , CM000668.1:g.137166758T>G	GRCh37
NC_000006.10:g.137208451T>G	NCBI36
NG_008462.1:g.28041T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.345T>G MANE Select	ENSP00000315680.3:p.Tyr115Ter
ENST00000541292.6:c.345T>G	ENSP00000441004.1:p.Tyr115Ter
ENST00000678002.1:c.214+19151T>G
ENST00000678557.1:c.231T>G	ENSP00000502962.1:p.Tyr77Ter
ENST00000678593.1:c.350T>G	ENSP00000503841.1:n.350T>G
ENST00000679286.1:c.225T>G	ENSP00000503168.1:p.Tyr75Ter
ENST00000318471.4:c.345T>G	ENSP00000315680.3:p.Tyr115Ter
ENST00000541292.5:c.345T>G	ENSP00000441004.1:p.Tyr115Ter
NM_000288.3:c.345T>G	NP_000279.1:p.Tyr115Ter
XM_005267019.3:c.231T>G	XP_005267076.1:p.Tyr77Ter
XM_006715502.1:c.339+19151T>G	XP_006715565.1:n.339+19151T>G
XM_011535900.1:c.345T>G	XP_011534202.1:p.Tyr115Ter
XM_005267019.4:c.231T>G	XP_005267076.1:p.Tyr77Ter
XM_006715502.2:c.339+19151T>G	XP_006715565.1:n.339+19151T>G
XM_017010934.2:c.345T>G	XP_016866423.1:p.Tyr115Ter
NM_000288.4:c.345T>G MANE Select	NP_000279.1:p.Tyr115Ter