Canonical Allele Identifier: CA365764496

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137193390A>T (hg19) ; chr6:g.136872252A>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.802A>T MANE Select	ENSP00000315680.3:p.Arg268Ter
ENST00000541292.6:c.*67A>T	ENSP00000441004.1:n.*67A>T
ENST00000678002.1:c.490A>T
ENST00000678557.1:c.688A>T	ENSP00000502962.1:p.Arg230Ter
ENST00000678593.1:c.807A>T	ENSP00000503841.1:n.807A>T
ENST00000679286.1:c.682A>T	ENSP00000503168.1:p.Arg228Ter
ENST00000318471.4:c.802A>T	ENSP00000315680.3:p.Arg268Ter
NM_000288.3:c.802A>T	NP_000279.1:p.Arg268Ter
XM_005267019.3:c.688A>T	XP_005267076.1:p.Arg230Ter
XM_006715502.1:c.508A>T	XP_006715565.1:p.Arg170Ter
XM_011535900.1:c.527-25890A>T	XP_011534202.1:n.527-25890A>T
XM_005267019.4:c.688A>T	XP_005267076.1:p.Arg230Ter
XM_006715502.2:c.508A>T	XP_006715565.1:p.Arg170Ter
XM_017010934.2:c.527-25890A>T	XP_016866423.1:n.527-25890A>T
NM_000288.4:c.802A>T MANE Select	NP_000279.1:p.Arg268Ter