Canonical Allele Identifier: CA148641172

Gene: PEX7

Linked Data

• ClinVar Variation Id: 1952033
• ClinVar RCV Id: RCV002676678
• dbSNP Id: rs61753240
• gnomAD v4: 6-136826387-G-T
• MyVariant Identifiers: chr6:g.137147525G>T (hg19) ; chr6:g.136826387G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826387G>T , CM000668.2:g.136826387G>T	GRCh38
NC_000006.11:g.137147525G>T , CM000668.1:g.137147525G>T	GRCh37
NC_000006.10:g.137189218G>T	NCBI36
NG_008462.1:g.8808G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.257G>T MANE Select	ENSP00000315680.3:p.Cys86Phe
ENST00000541292.6:c.257G>T	ENSP00000441004.1:p.Cys86Phe
ENST00000678002.1:c.132G>T
ENST00000678557.1:c.143G>T	ENSP00000502962.1:p.Cys48Phe
ENST00000678593.1:c.262G>T	ENSP00000503841.1:n.262G>T
ENST00000679286.1:c.137G>T	ENSP00000503168.1:p.Cys46Phe
ENST00000318471.4:c.257G>T	ENSP00000315680.3:p.Cys86Phe
ENST00000367756.8:c.257G>T	ENSP00000356730.4:p.Cys86Phe
ENST00000541292.5:c.257G>T	ENSP00000441004.1:p.Cys86Phe
NM_000288.3:c.257G>T	NP_000279.1:p.Cys86Phe
XM_005267019.3:c.143G>T	XP_005267076.1:p.Cys48Phe
XM_006715502.1:c.257G>T	XP_006715565.1:p.Cys86Phe
XM_011535900.1:c.257G>T	XP_011534202.1:p.Cys86Phe
XM_005267019.4:c.143G>T	XP_005267076.1:p.Cys48Phe
XM_006715502.2:c.257G>T	XP_006715565.1:p.Cys86Phe
XM_017010934.2:c.257G>T	XP_016866423.1:p.Cys86Phe
NM_000288.4:c.257G>T MANE Select	NP_000279.1:p.Cys86Phe