Canonical Allele Identifier: CA365766752

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219347G>C (hg19) ; chr6:g.136898209G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898209G>C , CM000668.2:g.136898209G>C	GRCh38
NC_000006.11:g.137219347G>C , CM000668.1:g.137219347G>C	GRCh37
NC_000006.10:g.137261040G>C	NCBI36
NG_008462.1:g.80630G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.871G>C MANE Select	ENSP00000315680.3:p.Gly291Arg
ENST00000541292.6:c.*136G>C	ENSP00000441004.1:n.*136G>C
ENST00000678002.1:c.559G>C
ENST00000678557.1:c.757G>C	ENSP00000502962.1:p.Gly253Arg
ENST00000679286.1:c.751G>C	ENSP00000503168.1:p.Gly251Arg
ENST00000318471.4:c.871G>C	ENSP00000315680.3:p.Gly291Arg
NM_000288.3:c.871G>C	NP_000279.1:p.Gly291Arg
XM_005267019.3:c.757G>C	XP_005267076.1:p.Gly253Arg
XM_006715502.1:c.577G>C	XP_006715565.1:p.Gly193Arg
XM_011535900.1:c.594G>C	XP_011534202.1:p.Val198=
XM_005267019.4:c.757G>C	XP_005267076.1:p.Gly253Arg
XM_006715502.2:c.577G>C	XP_006715565.1:p.Gly193Arg
XM_017010934.2:c.594G>C	XP_016866423.1:p.Val198=
NM_000288.4:c.871G>C MANE Select	NP_000279.1:p.Gly291Arg