Canonical Allele Identifier: CA148218726

Gene: PEX7

Linked Data

• dbSNP Id: rs904724629
• COSMIC: COSM1159178
• MyVariant Identifiers: chr6:g.137219326C>T (hg19) ; chr6:g.136898188C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898188C>T , CM000668.2:g.136898188C>T	GRCh38
NC_000006.11:g.137219326C>T , CM000668.1:g.137219326C>T	GRCh37
NC_000006.10:g.137261019C>T	NCBI36
NG_008462.1:g.80609C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.850C>T MANE Select	ENSP00000315680.3:p.His284Tyr
ENST00000541292.6:c.*115C>T	ENSP00000441004.1:n.*115C>T
ENST00000678002.1:c.538C>T
ENST00000678557.1:c.736C>T	ENSP00000502962.1:p.His246Tyr
ENST00000679286.1:c.730C>T	ENSP00000503168.1:p.His244Tyr
ENST00000318471.4:c.850C>T	ENSP00000315680.3:p.His284Tyr
NM_000288.3:c.850C>T	NP_000279.1:p.His284Tyr
XM_005267019.3:c.736C>T	XP_005267076.1:p.His246Tyr
XM_006715502.1:c.556C>T	XP_006715565.1:p.His186Tyr
XM_011535900.1:c.573C>T	XP_011534202.1:p.Ser191=
XM_005267019.4:c.736C>T	XP_005267076.1:p.His246Tyr
XM_006715502.2:c.556C>T	XP_006715565.1:p.His186Tyr
XM_017010934.2:c.573C>T	XP_016866423.1:p.Ser191=
NM_000288.4:c.850C>T MANE Select	NP_000279.1:p.His284Tyr