Canonical Allele Identifier: CA365766821

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219365C>G (hg19) ; chr6:g.136898227C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898227C>G , CM000668.2:g.136898227C>G	GRCh38
NC_000006.11:g.137219365C>G , CM000668.1:g.137219365C>G	GRCh37
NC_000006.10:g.137261058C>G	NCBI36
NG_008462.1:g.80648C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.889C>G MANE Select	ENSP00000315680.3:p.Gln297Glu
ENST00000541292.6:c.*154C>G	ENSP00000441004.1:n.*154C>G
ENST00000678002.1:c.577C>G
ENST00000678557.1:c.775C>G	ENSP00000502962.1:p.Gln259Glu
ENST00000679286.1:c.769C>G	ENSP00000503168.1:p.Gln257Glu
ENST00000318471.4:c.889C>G	ENSP00000315680.3:p.Gln297Glu
NM_000288.3:c.889C>G	NP_000279.1:p.Gln297Glu
XM_005267019.3:c.775C>G	XP_005267076.1:p.Gln259Glu
XM_006715502.1:c.595C>G	XP_006715565.1:p.Gln199Glu
XM_005267019.4:c.775C>G	XP_005267076.1:p.Gln259Glu
XM_006715502.2:c.595C>G	XP_006715565.1:p.Gln199Glu
XM_017010934.2:c.*12C>G	XP_016866423.1:n.*12C>G
NM_000288.4:c.889C>G MANE Select	NP_000279.1:p.Gln297Glu