Canonical Allele Identifier: CA452376622

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137147517C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826379C>A , CM000668.2:g.136826379C>A	GRCh38
NC_000006.11:g.137147517C>A , CM000668.1:g.137147517C>A	GRCh37
NC_000006.10:g.137189210C>A	NCBI36
NG_008462.1:g.8800C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.249C>A MANE Select	ENSP00000315680.3:p.Leu83=
ENST00000541292.6:c.249C>A	ENSP00000441004.1:p.Leu83=
ENST00000678002.1:c.124C>A
ENST00000678557.1:c.135C>A	ENSP00000502962.1:p.Leu45=
ENST00000678593.1:c.254C>A	ENSP00000503841.1:n.254C>A
ENST00000679286.1:c.129C>A	ENSP00000503168.1:p.Leu43=
ENST00000318471.4:c.249C>A	ENSP00000315680.3:p.Leu83=
ENST00000367756.8:c.249C>A	ENSP00000356730.4:p.Leu83=
ENST00000541292.5:c.249C>A	ENSP00000441004.1:p.Leu83=
NM_000288.3:c.249C>A	NP_000279.1:p.Leu83=
XM_005267019.3:c.135C>A	XP_005267076.1:p.Leu45=
XM_006715502.1:c.249C>A	XP_006715565.1:p.Leu83=
XM_011535900.1:c.249C>A	XP_011534202.1:p.Leu83=
XM_005267019.4:c.135C>A	XP_005267076.1:p.Leu45=
XM_006715502.2:c.249C>A	XP_006715565.1:p.Leu83=
XM_017010934.2:c.249C>A	XP_016866423.1:p.Leu83=
NM_000288.4:c.249C>A MANE Select	NP_000279.1:p.Leu83=