Canonical Allele Identifier: CA452231808

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219343T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898205T>A , CM000668.2:g.136898205T>A	GRCh38
NC_000006.11:g.137219343T>A , CM000668.1:g.137219343T>A	GRCh37
NC_000006.10:g.137261036T>A	NCBI36
NG_008462.1:g.80626T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.867T>A MANE Select	ENSP00000315680.3:p.Thr289=
ENST00000541292.6:c.*132T>A	ENSP00000441004.1:n.*132T>A
ENST00000678002.1:c.555T>A
ENST00000678557.1:c.753T>A	ENSP00000502962.1:p.Thr251=
ENST00000679286.1:c.747T>A	ENSP00000503168.1:p.Thr249=
ENST00000318471.4:c.867T>A	ENSP00000315680.3:p.Thr289=
NM_000288.3:c.867T>A	NP_000279.1:p.Thr289=
XM_005267019.3:c.753T>A	XP_005267076.1:p.Thr251=
XM_006715502.1:c.573T>A	XP_006715565.1:p.Thr191=
XM_011535900.1:c.590T>A	XP_011534202.1:p.Leu197His
XM_005267019.4:c.753T>A	XP_005267076.1:p.Thr251=
XM_006715502.2:c.573T>A	XP_006715565.1:p.Thr191=
XM_017010934.2:c.590T>A	XP_016866423.1:p.Leu197His
NM_000288.4:c.867T>A MANE Select	NP_000279.1:p.Thr289=