Canonical Allele Identifier: CA452227875

Gene: PEX7

Linked Data

• COSMIC: COSM5996651
• MyVariant Identifiers: chr6:g.137191051T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136869913T>A , CM000668.2:g.136869913T>A	GRCh38
NC_000006.11:g.137191051T>A , CM000668.1:g.137191051T>A	GRCh37
NC_000006.10:g.137232744T>A	NCBI36
NG_008462.1:g.52334T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.657T>A MANE Select	ENSP00000315680.3:p.Val219=
ENST00000541292.6:c.657T>A	ENSP00000441004.1:p.Val219=
ENST00000678002.1:c.345T>A
ENST00000678557.1:c.543T>A	ENSP00000502962.1:p.Val181=
ENST00000678593.1:c.662T>A	ENSP00000503841.1:n.662T>A
ENST00000679286.1:c.537T>A	ENSP00000503168.1:p.Val179=
ENST00000318471.4:c.657T>A	ENSP00000315680.3:p.Val219=
ENST00000541292.5:c.657T>A	ENSP00000441004.1:p.Val219=
NM_000288.3:c.657T>A	NP_000279.1:p.Val219=
XM_005267019.3:c.543T>A	XP_005267076.1:p.Val181=
XM_006715502.1:c.363T>A	XP_006715565.1:p.Val121=
XM_011535900.1:c.526+23732T>A	XP_011534202.1:n.526+23732T>A
XM_005267019.4:c.543T>A	XP_005267076.1:p.Val181=
XM_006715502.2:c.363T>A	XP_006715565.1:p.Val121=
XM_017010934.2:c.526+23732T>A	XP_016866423.1:n.526+23732T>A
NM_000288.4:c.657T>A MANE Select	NP_000279.1:p.Val219=