Canonical Allele Identifier: CA452228808

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137193390A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872252A>C , CM000668.2:g.136872252A>C	GRCh38
NC_000006.11:g.137193390A>C , CM000668.1:g.137193390A>C	GRCh37
NC_000006.10:g.137235083A>C	NCBI36
NG_008462.1:g.54673A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.802A>C MANE Select	ENSP00000315680.3:p.Arg268=
ENST00000541292.6:c.*67A>C	ENSP00000441004.1:n.*67A>C
ENST00000678002.1:c.490A>C
ENST00000678557.1:c.688A>C	ENSP00000502962.1:p.Arg230=
ENST00000678593.1:c.807A>C	ENSP00000503841.1:n.807A>C
ENST00000679286.1:c.682A>C	ENSP00000503168.1:p.Arg228=
ENST00000318471.4:c.802A>C	ENSP00000315680.3:p.Arg268=
NM_000288.3:c.802A>C	NP_000279.1:p.Arg268=
XM_005267019.3:c.688A>C	XP_005267076.1:p.Arg230=
XM_006715502.1:c.508A>C	XP_006715565.1:p.Arg170=
XM_011535900.1:c.527-25890A>C	XP_011534202.1:n.527-25890A>C
XM_005267019.4:c.688A>C	XP_005267076.1:p.Arg230=
XM_006715502.2:c.508A>C	XP_006715565.1:p.Arg170=
XM_017010934.2:c.527-25890A>C	XP_016866423.1:n.527-25890A>C
NM_000288.4:c.802A>C MANE Select	NP_000279.1:p.Arg268=