Canonical Allele Identifier: CA365766672

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219327A>T (hg19) ; chr6:g.136898189A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898189A>T , CM000668.2:g.136898189A>T	GRCh38
NC_000006.11:g.137219327A>T , CM000668.1:g.137219327A>T	GRCh37
NC_000006.10:g.137261020A>T	NCBI36
NG_008462.1:g.80610A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.851A>T MANE Select	ENSP00000315680.3:p.His284Leu
ENST00000541292.6:c.*116A>T	ENSP00000441004.1:n.*116A>T
ENST00000678002.1:c.539A>T
ENST00000678557.1:c.737A>T	ENSP00000502962.1:p.His246Leu
ENST00000679286.1:c.731A>T	ENSP00000503168.1:p.His244Leu
ENST00000318471.4:c.851A>T	ENSP00000315680.3:p.His284Leu
NM_000288.3:c.851A>T	NP_000279.1:p.His284Leu
XM_005267019.3:c.737A>T	XP_005267076.1:p.His246Leu
XM_006715502.1:c.557A>T	XP_006715565.1:p.His186Leu
XM_011535900.1:c.574A>T	XP_011534202.1:p.Ile192Phe
XM_005267019.4:c.737A>T	XP_005267076.1:p.His246Leu
XM_006715502.2:c.557A>T	XP_006715565.1:p.His186Leu
XM_017010934.2:c.574A>T	XP_016866423.1:p.Ile192Phe
NM_000288.4:c.851A>T MANE Select	NP_000279.1:p.His284Leu