Canonical Allele Identifier: CA452228806

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137193389A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872251A>T , CM000668.2:g.136872251A>T	GRCh38
NC_000006.11:g.137193389A>T , CM000668.1:g.137193389A>T	GRCh37
NC_000006.10:g.137235082A>T	NCBI36
NG_008462.1:g.54672A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.801A>T MANE Select	ENSP00000315680.3:p.Val267=
ENST00000541292.6:c.*66A>T	ENSP00000441004.1:n.*66A>T
ENST00000678002.1:c.489A>T
ENST00000678557.1:c.687A>T	ENSP00000502962.1:p.Val229=
ENST00000678593.1:c.806A>T	ENSP00000503841.1:n.806A>T
ENST00000679286.1:c.681A>T	ENSP00000503168.1:p.Val227=
ENST00000318471.4:c.801A>T	ENSP00000315680.3:p.Val267=
NM_000288.3:c.801A>T	NP_000279.1:p.Val267=
XM_005267019.3:c.687A>T	XP_005267076.1:p.Val229=
XM_006715502.1:c.507A>T	XP_006715565.1:p.Val169=
XM_011535900.1:c.527-25891A>T	XP_011534202.1:n.527-25891A>T
XM_005267019.4:c.687A>T	XP_005267076.1:p.Val229=
XM_006715502.2:c.507A>T	XP_006715565.1:p.Val169=
XM_017010934.2:c.527-25891A>T	XP_016866423.1:n.527-25891A>T
NM_000288.4:c.801A>T MANE Select	NP_000279.1:p.Val267=