Canonical Allele Identifier: CA365855859

Gene: PEX7

Linked Data

• dbSNP Id: rs1291915942
• gnomAD v2: 6-137147522-C-T
• gnomAD v4: 6-136826384-C-T
• MyVariant Identifiers: chr6:g.137147522C>T (hg19) ; chr6:g.136826384C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826384C>T , CM000668.2:g.136826384C>T	GRCh38
NC_000006.11:g.137147522C>T , CM000668.1:g.137147522C>T	GRCh37
NC_000006.10:g.137189215C>T	NCBI36
NG_008462.1:g.8805C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.254C>T MANE Select	ENSP00000315680.3:p.Thr85Ile
ENST00000541292.6:c.254C>T	ENSP00000441004.1:p.Thr85Ile
ENST00000678002.1:c.129C>T
ENST00000678557.1:c.140C>T	ENSP00000502962.1:p.Thr47Ile
ENST00000678593.1:c.259C>T	ENSP00000503841.1:n.259C>T
ENST00000679286.1:c.134C>T	ENSP00000503168.1:p.Thr45Ile
ENST00000318471.4:c.254C>T	ENSP00000315680.3:p.Thr85Ile
ENST00000367756.8:c.254C>T	ENSP00000356730.4:p.Thr85Ile
ENST00000541292.5:c.254C>T	ENSP00000441004.1:p.Thr85Ile
NM_000288.3:c.254C>T	NP_000279.1:p.Thr85Ile
XM_005267019.3:c.140C>T	XP_005267076.1:p.Thr47Ile
XM_006715502.1:c.254C>T	XP_006715565.1:p.Thr85Ile
XM_011535900.1:c.254C>T	XP_011534202.1:p.Thr85Ile
XM_005267019.4:c.140C>T	XP_005267076.1:p.Thr47Ile
XM_006715502.2:c.254C>T	XP_006715565.1:p.Thr85Ile
XM_017010934.2:c.254C>T	XP_016866423.1:p.Thr85Ile
NM_000288.4:c.254C>T MANE Select	NP_000279.1:p.Thr85Ile