Canonical Allele Identifier: CA365855925

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137147553G>C (hg19) ; chr6:g.136826415G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826415G>C , CM000668.2:g.136826415G>C	GRCh38
NC_000006.11:g.137147553G>C , CM000668.1:g.137147553G>C	GRCh37
NC_000006.10:g.137189246G>C	NCBI36
NG_008462.1:g.8836G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.285G>C MANE Select	ENSP00000315680.3:p.Trp95Cys
ENST00000541292.6:c.285G>C	ENSP00000441004.1:p.Trp95Cys
ENST00000678002.1:c.160G>C
ENST00000678557.1:c.171G>C	ENSP00000502962.1:p.Trp57Cys
ENST00000678593.1:c.290G>C	ENSP00000503841.1:n.290G>C
ENST00000679286.1:c.165G>C	ENSP00000503168.1:p.Trp55Cys
ENST00000318471.4:c.285G>C	ENSP00000315680.3:p.Trp95Cys
ENST00000367756.8:c.285G>C	ENSP00000356730.4:p.Trp95Cys
ENST00000541292.5:c.285G>C	ENSP00000441004.1:p.Trp95Cys
NM_000288.3:c.285G>C	NP_000279.1:p.Trp95Cys
XM_005267019.3:c.171G>C	XP_005267076.1:p.Trp57Cys
XM_006715502.1:c.285G>C	XP_006715565.1:p.Trp95Cys
XM_011535900.1:c.285G>C	XP_011534202.1:p.Trp95Cys
XM_005267019.4:c.171G>C	XP_005267076.1:p.Trp57Cys
XM_006715502.2:c.285G>C	XP_006715565.1:p.Trp95Cys
XM_017010934.2:c.285G>C	XP_016866423.1:p.Trp95Cys
NM_000288.4:c.285G>C MANE Select	NP_000279.1:p.Trp95Cys