Canonical Allele Identifier: CA365762862

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137187790T>A (hg19) ; chr6:g.136866652T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136866652T>A , CM000668.2:g.136866652T>A	GRCh38
NC_000006.11:g.137187790T>A , CM000668.1:g.137187790T>A	GRCh37
NC_000006.10:g.137229483T>A	NCBI36
NG_008462.1:g.49073T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.552T>A MANE Select	ENSP00000315680.3:p.Asp184Glu
ENST00000541292.6:c.552T>A	ENSP00000441004.1:p.Asp184Glu
ENST00000678002.1:c.240T>A
ENST00000678557.1:c.438T>A	ENSP00000502962.1:p.Asp146Glu
ENST00000678593.1:c.557T>A	ENSP00000503841.1:n.557T>A
ENST00000679286.1:c.432T>A	ENSP00000503168.1:p.Asp144Glu
ENST00000318471.4:c.552T>A	ENSP00000315680.3:p.Asp184Glu
ENST00000541292.5:c.552T>A	ENSP00000441004.1:p.Asp184Glu
NM_000288.3:c.552T>A	NP_000279.1:p.Asp184Glu
XM_005267019.3:c.438T>A	XP_005267076.1:p.Asp146Glu
XM_006715502.1:c.340-3238T>A	XP_006715565.1:n.340-3238T>A
XM_011535900.1:c.526+20471T>A	XP_011534202.1:n.526+20471T>A
XM_005267019.4:c.438T>A	XP_005267076.1:p.Asp146Glu
XM_006715502.2:c.340-3238T>A	XP_006715565.1:n.340-3238T>A
XM_017010934.2:c.526+20471T>A	XP_016866423.1:n.526+20471T>A
NM_000288.4:c.552T>A MANE Select	NP_000279.1:p.Asp184Glu