Canonical Allele Identifier: CA365766523

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219281T>A (hg19) ; chr6:g.136898143T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898143T>A , CM000668.2:g.136898143T>A	GRCh38
NC_000006.11:g.137219281T>A , CM000668.1:g.137219281T>A	GRCh37
NC_000006.10:g.137260974T>A	NCBI36
NG_008462.1:g.80564T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.805T>A MANE Select	ENSP00000315680.3:p.Phe269Ile
ENST00000541292.6:c.*70T>A	ENSP00000441004.1:n.*70T>A
ENST00000678002.1:c.493T>A
ENST00000678557.1:c.691T>A	ENSP00000502962.1:p.Phe231Ile
ENST00000679286.1:c.685T>A	ENSP00000503168.1:p.Phe229Ile
ENST00000318471.4:c.805T>A	ENSP00000315680.3:p.Phe269Ile
NM_000288.3:c.805T>A	NP_000279.1:p.Phe269Ile
XM_005267019.3:c.691T>A	XP_005267076.1:p.Phe231Ile
XM_006715502.1:c.511T>A	XP_006715565.1:p.Phe171Ile
XM_011535900.1:c.528T>A	XP_011534202.1:p.Asp176Glu
XM_005267019.4:c.691T>A	XP_005267076.1:p.Phe231Ile
XM_006715502.2:c.511T>A	XP_006715565.1:p.Phe171Ile
XM_017010934.2:c.528T>A	XP_016866423.1:p.Asp176Glu
NM_000288.4:c.805T>A MANE Select	NP_000279.1:p.Phe269Ile