Canonical Allele Identifier: CA365766851

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219372C>G (hg19) ; chr6:g.136898234C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898234C>G , CM000668.2:g.136898234C>G	GRCh38
NC_000006.11:g.137219372C>G , CM000668.1:g.137219372C>G	GRCh37
NC_000006.10:g.137261065C>G	NCBI36
NG_008462.1:g.80655C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.896C>G MANE Select	ENSP00000315680.3:p.Pro299Arg
ENST00000541292.6:c.*161C>G	ENSP00000441004.1:n.*161C>G
ENST00000678002.1:c.584C>G
ENST00000678557.1:c.782C>G	ENSP00000502962.1:p.Pro261Arg
ENST00000679286.1:c.776C>G	ENSP00000503168.1:p.Pro259Arg
ENST00000318471.4:c.896C>G	ENSP00000315680.3:p.Pro299Arg
NM_000288.3:c.896C>G	NP_000279.1:p.Pro299Arg
XM_005267019.3:c.782C>G	XP_005267076.1:p.Pro261Arg
XM_006715502.1:c.602C>G	XP_006715565.1:p.Pro201Arg
XM_005267019.4:c.782C>G	XP_005267076.1:p.Pro261Arg
XM_006715502.2:c.602C>G	XP_006715565.1:p.Pro201Arg
XM_017010934.2:c.*19C>G	XP_016866423.1:n.*19C>G
NM_000288.4:c.896C>G MANE Select	NP_000279.1:p.Pro299Arg