Canonical Allele Identifier: CA365766655

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219323G>A (hg19) ; chr6:g.136898185G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898185G>A , CM000668.2:g.136898185G>A	GRCh38
NC_000006.11:g.137219323G>A , CM000668.1:g.137219323G>A	GRCh37
NC_000006.10:g.137261016G>A	NCBI36
NG_008462.1:g.80606G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.847G>A MANE Select	ENSP00000315680.3:p.Glu283Lys
ENST00000541292.6:c.*112G>A	ENSP00000441004.1:n.*112G>A
ENST00000678002.1:c.535G>A
ENST00000678557.1:c.733G>A	ENSP00000502962.1:p.Glu245Lys
ENST00000679286.1:c.727G>A	ENSP00000503168.1:p.Glu243Lys
ENST00000318471.4:c.847G>A	ENSP00000315680.3:p.Glu283Lys
NM_000288.3:c.847G>A	NP_000279.1:p.Glu283Lys
XM_005267019.3:c.733G>A	XP_005267076.1:p.Glu245Lys
XM_006715502.1:c.553G>A	XP_006715565.1:p.Glu185Lys
XM_011535900.1:c.570G>A	XP_011534202.1:p.Trp190Ter
XM_005267019.4:c.733G>A	XP_005267076.1:p.Glu245Lys
XM_006715502.2:c.553G>A	XP_006715565.1:p.Glu185Lys
XM_017010934.2:c.570G>A	XP_016866423.1:p.Trp190Ter
NM_000288.4:c.847G>A MANE Select	NP_000279.1:p.Glu283Lys