Canonical Allele Identifier: CA365766567

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219298G>C (hg19) ; chr6:g.136898160G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898160G>C , CM000668.2:g.136898160G>C	GRCh38
NC_000006.11:g.137219298G>C , CM000668.1:g.137219298G>C	GRCh37
NC_000006.10:g.137260991G>C	NCBI36
NG_008462.1:g.80581G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.822G>C MANE Select	ENSP00000315680.3:p.Lys274Asn
ENST00000541292.6:c.*87G>C	ENSP00000441004.1:n.*87G>C
ENST00000678002.1:c.510G>C
ENST00000678557.1:c.708G>C	ENSP00000502962.1:p.Lys236Asn
ENST00000679286.1:c.702G>C	ENSP00000503168.1:p.Lys234Asn
ENST00000318471.4:c.822G>C	ENSP00000315680.3:p.Lys274Asn
NM_000288.3:c.822G>C	NP_000279.1:p.Lys274Asn
XM_005267019.3:c.708G>C	XP_005267076.1:p.Lys236Asn
XM_006715502.1:c.528G>C	XP_006715565.1:p.Lys176Asn
XM_011535900.1:c.545G>C	XP_011534202.1:p.Ser182Thr
XM_005267019.4:c.708G>C	XP_005267076.1:p.Lys236Asn
XM_006715502.2:c.528G>C	XP_006715565.1:p.Lys176Asn
XM_017010934.2:c.545G>C	XP_016866423.1:p.Ser182Thr
NM_000288.4:c.822G>C MANE Select	NP_000279.1:p.Lys274Asn