Canonical Allele Identifier: CA4017545

Gene: PEX7

Linked Data

• ClinVar Variation Id: 370682
• ClinVar RCV Id: RCV000409536 ; RCV001387967 ; RCV001828373 ; RCV002278634 ; RCV002502423
• dbSNP Id: rs763514968
• ExAC: 6:137147545 C / T
• MyVariant Identifiers: chr6:g.137147545C>T (hg19) ; chr6:g.136826407C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826407C>T , CM000668.2:g.136826407C>T	GRCh38
NC_000006.11:g.137147545C>T , CM000668.1:g.137147545C>T	GRCh37
NC_000006.10:g.137189238C>T	NCBI36
NG_008462.1:g.8828C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.277C>T MANE Select	ENSP00000315680.3:p.Gln93Ter
ENST00000541292.6:c.277C>T	ENSP00000441004.1:p.Gln93Ter
ENST00000678002.1:c.152C>T
ENST00000678557.1:c.163C>T	ENSP00000502962.1:p.Gln55Ter
ENST00000678593.1:c.282C>T	ENSP00000503841.1:n.282C>T
ENST00000679286.1:c.157C>T	ENSP00000503168.1:p.Gln53Ter
ENST00000318471.4:c.277C>T	ENSP00000315680.3:p.Gln93Ter
ENST00000367756.8:c.277C>T	ENSP00000356730.4:p.Gln93Ter
ENST00000541292.5:c.277C>T	ENSP00000441004.1:p.Gln93Ter
NM_000288.3:c.277C>T	NP_000279.1:p.Gln93Ter
XM_005267019.3:c.163C>T	XP_005267076.1:p.Gln55Ter
XM_006715502.1:c.277C>T	XP_006715565.1:p.Gln93Ter
XM_011535900.1:c.277C>T	XP_011534202.1:p.Gln93Ter
XM_005267019.4:c.163C>T	XP_005267076.1:p.Gln55Ter
XM_006715502.2:c.277C>T	XP_006715565.1:p.Gln93Ter
XM_017010934.2:c.277C>T	XP_016866423.1:p.Gln93Ter
NM_000288.4:c.277C>T MANE Select	NP_000279.1:p.Gln93Ter