Canonical Allele Identifier: CA365766823

Gene: PEX7

Linked Data

• COSMIC: COSM5895864
• MyVariant Identifiers: chr6:g.137219365C>T (hg19) ; chr6:g.136898227C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.889C>T MANE Select	ENSP00000315680.3:p.Gln297Ter
ENST00000541292.6:c.*154C>T	ENSP00000441004.1:n.*154C>T
ENST00000678002.1:c.577C>T
ENST00000678557.1:c.775C>T	ENSP00000502962.1:p.Gln259Ter
ENST00000679286.1:c.769C>T	ENSP00000503168.1:p.Gln257Ter
ENST00000318471.4:c.889C>T	ENSP00000315680.3:p.Gln297Ter
NM_000288.3:c.889C>T	NP_000279.1:p.Gln297Ter
XM_005267019.3:c.775C>T	XP_005267076.1:p.Gln259Ter
XM_006715502.1:c.595C>T	XP_006715565.1:p.Gln199Ter
XM_005267019.4:c.775C>T	XP_005267076.1:p.Gln259Ter
XM_006715502.2:c.595C>T	XP_006715565.1:p.Gln199Ter
XM_017010934.2:c.*12C>T	XP_016866423.1:n.*12C>T
NM_000288.4:c.889C>T MANE Select	NP_000279.1:p.Gln297Ter