Canonical Allele Identifier: CA365766674

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219328T>A (hg19) ; chr6:g.136898190T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898190T>A , CM000668.2:g.136898190T>A	GRCh38
NC_000006.11:g.137219328T>A , CM000668.1:g.137219328T>A	GRCh37
NC_000006.10:g.137261021T>A	NCBI36
NG_008462.1:g.80611T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.852T>A MANE Select	ENSP00000315680.3:p.His284Gln
ENST00000541292.6:c.*117T>A	ENSP00000441004.1:n.*117T>A
ENST00000678002.1:c.540T>A
ENST00000678557.1:c.738T>A	ENSP00000502962.1:p.His246Gln
ENST00000679286.1:c.732T>A	ENSP00000503168.1:p.His244Gln
ENST00000318471.4:c.852T>A	ENSP00000315680.3:p.His284Gln
NM_000288.3:c.852T>A	NP_000279.1:p.His284Gln
XM_005267019.3:c.738T>A	XP_005267076.1:p.His246Gln
XM_006715502.1:c.558T>A	XP_006715565.1:p.His186Gln
XM_011535900.1:c.575T>A	XP_011534202.1:p.Ile192Asn
XM_005267019.4:c.738T>A	XP_005267076.1:p.His246Gln
XM_006715502.2:c.558T>A	XP_006715565.1:p.His186Gln
XM_017010934.2:c.575T>A	XP_016866423.1:p.Ile192Asn
NM_000288.4:c.852T>A MANE Select	NP_000279.1:p.His284Gln