Canonical Allele Identifier: CA365764461

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137193375T>A (hg19) ; chr6:g.136872237T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872237T>A , CM000668.2:g.136872237T>A	GRCh38
NC_000006.11:g.137193375T>A , CM000668.1:g.137193375T>A	GRCh37
NC_000006.10:g.137235068T>A	NCBI36
NG_008462.1:g.54658T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.787T>A MANE Select	ENSP00000315680.3:p.Tyr263Asn
ENST00000541292.6:c.*52T>A	ENSP00000441004.1:n.*52T>A
ENST00000678002.1:c.475T>A
ENST00000678557.1:c.673T>A	ENSP00000502962.1:p.Tyr225Asn
ENST00000678593.1:c.792T>A	ENSP00000503841.1:n.792T>A
ENST00000679286.1:c.667T>A	ENSP00000503168.1:p.Tyr223Asn
ENST00000318471.4:c.787T>A	ENSP00000315680.3:p.Tyr263Asn
NM_000288.3:c.787T>A	NP_000279.1:p.Tyr263Asn
XM_005267019.3:c.673T>A	XP_005267076.1:p.Tyr225Asn
XM_006715502.1:c.493T>A	XP_006715565.1:p.Tyr165Asn
XM_011535900.1:c.527-25905T>A	XP_011534202.1:n.527-25905T>A
XM_005267019.4:c.673T>A	XP_005267076.1:p.Tyr225Asn
XM_006715502.2:c.493T>A	XP_006715565.1:p.Tyr165Asn
XM_017010934.2:c.527-25905T>A	XP_016866423.1:n.527-25905T>A
NM_000288.4:c.787T>A MANE Select	NP_000279.1:p.Tyr263Asn