Canonical Allele Identifier: CA365762828

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137187783T>A (hg19) ; chr6:g.136866645T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136866645T>A , CM000668.2:g.136866645T>A	GRCh38
NC_000006.11:g.137187783T>A , CM000668.1:g.137187783T>A	GRCh37
NC_000006.10:g.137229476T>A	NCBI36
NG_008462.1:g.49066T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.545T>A MANE Select	ENSP00000315680.3:p.Ile182Lys
ENST00000541292.6:c.545T>A	ENSP00000441004.1:p.Ile182Lys
ENST00000678002.1:c.233T>A
ENST00000678557.1:c.431T>A	ENSP00000502962.1:p.Ile144Lys
ENST00000678593.1:c.550T>A	ENSP00000503841.1:n.550T>A
ENST00000679286.1:c.425T>A	ENSP00000503168.1:p.Ile142Lys
ENST00000318471.4:c.545T>A	ENSP00000315680.3:p.Ile182Lys
ENST00000541292.5:c.545T>A	ENSP00000441004.1:p.Ile182Lys
NM_000288.3:c.545T>A	NP_000279.1:p.Ile182Lys
XM_005267019.3:c.431T>A	XP_005267076.1:p.Ile144Lys
XM_006715502.1:c.340-3245T>A	XP_006715565.1:n.340-3245T>A
XM_011535900.1:c.526+20464T>A	XP_011534202.1:n.526+20464T>A
XM_005267019.4:c.431T>A	XP_005267076.1:p.Ile144Lys
XM_006715502.2:c.340-3245T>A	XP_006715565.1:n.340-3245T>A
XM_017010934.2:c.526+20464T>A	XP_016866423.1:n.526+20464T>A
NM_000288.4:c.545T>A MANE Select	NP_000279.1:p.Ile182Lys