Canonical Allele Identifier: CA365766635

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219318C>A (hg19) ; chr6:g.136898180C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898180C>A , CM000668.2:g.136898180C>A	GRCh38
NC_000006.11:g.137219318C>A , CM000668.1:g.137219318C>A	GRCh37
NC_000006.10:g.137261011C>A	NCBI36
NG_008462.1:g.80601C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.842C>A MANE Select	ENSP00000315680.3:p.Thr281Lys
ENST00000541292.6:c.*107C>A	ENSP00000441004.1:n.*107C>A
ENST00000678002.1:c.530C>A
ENST00000678557.1:c.728C>A	ENSP00000502962.1:p.Thr243Lys
ENST00000679286.1:c.722C>A	ENSP00000503168.1:p.Thr241Lys
ENST00000318471.4:c.842C>A	ENSP00000315680.3:p.Thr281Lys
NM_000288.3:c.842C>A	NP_000279.1:p.Thr281Lys
XM_005267019.3:c.728C>A	XP_005267076.1:p.Thr243Lys
XM_006715502.1:c.548C>A	XP_006715565.1:p.Thr183Lys
XM_011535900.1:c.565C>A	XP_011534202.1:p.Gln189Lys
XM_005267019.4:c.728C>A	XP_005267076.1:p.Thr243Lys
XM_006715502.2:c.548C>A	XP_006715565.1:p.Thr183Lys
XM_017010934.2:c.565C>A	XP_016866423.1:p.Gln189Lys
NM_000288.4:c.842C>A MANE Select	NP_000279.1:p.Thr281Lys