Canonical Allele Identifier: CA452376670

Gene: PEX7

Linked Data

• ClinVar Variation Id: 2743972
• ClinVar RCV Id: RCV003535522
• MyVariant Identifiers: chr6:g.137147532C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826394C>A , CM000668.2:g.136826394C>A	GRCh38
NC_000006.11:g.137147532C>A , CM000668.1:g.137147532C>A	GRCh37
NC_000006.10:g.137189225C>A	NCBI36
NG_008462.1:g.8815C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.264C>A MANE Select	ENSP00000315680.3:p.Gly88=
ENST00000541292.6:c.264C>A	ENSP00000441004.1:p.Gly88=
ENST00000678002.1:c.139C>A
ENST00000678557.1:c.150C>A	ENSP00000502962.1:p.Gly50=
ENST00000678593.1:c.269C>A	ENSP00000503841.1:n.269C>A
ENST00000679286.1:c.144C>A	ENSP00000503168.1:p.Gly48=
ENST00000318471.4:c.264C>A	ENSP00000315680.3:p.Gly88=
ENST00000367756.8:c.264C>A	ENSP00000356730.4:p.Gly88=
ENST00000541292.5:c.264C>A	ENSP00000441004.1:p.Gly88=
NM_000288.3:c.264C>A	NP_000279.1:p.Gly88=
XM_005267019.3:c.150C>A	XP_005267076.1:p.Gly50=
XM_006715502.1:c.264C>A	XP_006715565.1:p.Gly88=
XM_011535900.1:c.264C>A	XP_011534202.1:p.Gly88=
XM_005267019.4:c.150C>A	XP_005267076.1:p.Gly50=
XM_006715502.2:c.264C>A	XP_006715565.1:p.Gly88=
XM_017010934.2:c.264C>A	XP_016866423.1:p.Gly88=
NM_000288.4:c.264C>A MANE Select	NP_000279.1:p.Gly88=