Canonical Allele Identifier: CA365766646

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219321T>A (hg19) ; chr6:g.136898183T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898183T>A , CM000668.2:g.136898183T>A	GRCh38
NC_000006.11:g.137219321T>A , CM000668.1:g.137219321T>A	GRCh37
NC_000006.10:g.137261014T>A	NCBI36
NG_008462.1:g.80604T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.845T>A MANE Select	ENSP00000315680.3:p.Val282Glu
ENST00000541292.6:c.*110T>A	ENSP00000441004.1:n.*110T>A
ENST00000678002.1:c.533T>A
ENST00000678557.1:c.731T>A	ENSP00000502962.1:p.Val244Glu
ENST00000679286.1:c.725T>A	ENSP00000503168.1:p.Val242Glu
ENST00000318471.4:c.845T>A	ENSP00000315680.3:p.Val282Glu
NM_000288.3:c.845T>A	NP_000279.1:p.Val282Glu
XM_005267019.3:c.731T>A	XP_005267076.1:p.Val244Glu
XM_006715502.1:c.551T>A	XP_006715565.1:p.Val184Glu
XM_011535900.1:c.568T>A	XP_011534202.1:p.Trp190Arg
XM_005267019.4:c.731T>A	XP_005267076.1:p.Val244Glu
XM_006715502.2:c.551T>A	XP_006715565.1:p.Val184Glu
XM_017010934.2:c.568T>A	XP_016866423.1:p.Trp190Arg
NM_000288.4:c.845T>A MANE Select	NP_000279.1:p.Val282Glu