Canonical Allele Identifier: CA365766721

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219339T>G (hg19) ; chr6:g.136898201T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898201T>G , CM000668.2:g.136898201T>G	GRCh38
NC_000006.11:g.137219339T>G , CM000668.1:g.137219339T>G	GRCh37
NC_000006.10:g.137261032T>G	NCBI36
NG_008462.1:g.80622T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.863T>G MANE Select	ENSP00000315680.3:p.Phe288Cys
ENST00000541292.6:c.*128T>G	ENSP00000441004.1:n.*128T>G
ENST00000678002.1:c.551T>G
ENST00000678557.1:c.749T>G	ENSP00000502962.1:p.Phe250Cys
ENST00000679286.1:c.743T>G	ENSP00000503168.1:p.Phe248Cys
ENST00000318471.4:c.863T>G	ENSP00000315680.3:p.Phe288Cys
NM_000288.3:c.863T>G	NP_000279.1:p.Phe288Cys
XM_005267019.3:c.749T>G	XP_005267076.1:p.Phe250Cys
XM_006715502.1:c.569T>G	XP_006715565.1:p.Phe190Cys
XM_011535900.1:c.586T>G	XP_011534202.1:p.Leu196Val
XM_005267019.4:c.749T>G	XP_005267076.1:p.Phe250Cys
XM_006715502.2:c.569T>G	XP_006715565.1:p.Phe190Cys
XM_017010934.2:c.586T>G	XP_016866423.1:p.Leu196Val
NM_000288.4:c.863T>G MANE Select	NP_000279.1:p.Phe288Cys