Canonical Allele Identifier: CA119078

Gene: PEX7

Linked Data

• ClinVar Variation Id: 7790
• ClinVar RCV Id: RCV000008233 ; RCV000032117
• dbSNP Id: rs61753233
• gnomAD v4: 6-136822705-A-C
• MyVariant Identifiers: chr6:g.137143843A>C (hg19) ; chr6:g.136822705A>C (hg38)
• PubMed: PMID:12522768 ; PMID:20301447

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136822705A>C , CM000668.2:g.136822705A>C	GRCh38
NC_000006.11:g.137143843A>C , CM000668.1:g.137143843A>C	GRCh37
NC_000006.10:g.137185536A>C	NCBI36
NG_008462.1:g.5126A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.40A>C MANE Select	ENSP00000315680.3:p.Thr14Pro
ENST00000541292.6:c.40A>C	ENSP00000441004.1:p.Thr14Pro
ENST00000678593.1:c.40A>C	ENSP00000503841.1:p.Thr14Pro
ENST00000318471.4:c.40A>C	ENSP00000315680.3:p.Thr14Pro
ENST00000367756.8:c.40A>C	ENSP00000356730.4:p.Thr14Pro
ENST00000541292.5:c.40A>C	ENSP00000441004.1:p.Thr14Pro
NM_000288.3:c.40A>C	NP_000279.1:p.Thr14Pro
XM_006715502.1:c.40A>C	XP_006715565.1:p.Thr14Pro
XM_011535900.1:c.40A>C	XP_011534202.1:p.Thr14Pro
XM_006715502.2:c.40A>C	XP_006715565.1:p.Thr14Pro
XM_017010934.2:c.40A>C	XP_016866423.1:p.Thr14Pro
NM_000288.4:c.40A>C MANE Select	NP_000279.1:p.Thr14Pro