Canonical Allele Identifier: CA365766713

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219338T>A (hg19) ; chr6:g.136898200T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898200T>A , CM000668.2:g.136898200T>A	GRCh38
NC_000006.11:g.137219338T>A , CM000668.1:g.137219338T>A	GRCh37
NC_000006.10:g.137261031T>A	NCBI36
NG_008462.1:g.80621T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.862T>A MANE Select	ENSP00000315680.3:p.Phe288Ile
ENST00000541292.6:c.*127T>A	ENSP00000441004.1:n.*127T>A
ENST00000678002.1:c.550T>A
ENST00000678557.1:c.748T>A	ENSP00000502962.1:p.Phe250Ile
ENST00000679286.1:c.742T>A	ENSP00000503168.1:p.Phe248Ile
ENST00000318471.4:c.862T>A	ENSP00000315680.3:p.Phe288Ile
NM_000288.3:c.862T>A	NP_000279.1:p.Phe288Ile
XM_005267019.3:c.748T>A	XP_005267076.1:p.Phe250Ile
XM_006715502.1:c.568T>A	XP_006715565.1:p.Phe190Ile
XM_011535900.1:c.585T>A	XP_011534202.1:p.Ser195Arg
XM_005267019.4:c.748T>A	XP_005267076.1:p.Phe250Ile
XM_006715502.2:c.568T>A	XP_006715565.1:p.Phe190Ile
XM_017010934.2:c.585T>A	XP_016866423.1:p.Ser195Arg
NM_000288.4:c.862T>A MANE Select	NP_000279.1:p.Phe288Ile