Canonical Allele Identifier: CA365766538

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219286G>T (hg19) ; chr6:g.136898148G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898148G>T , CM000668.2:g.136898148G>T	GRCh38
NC_000006.11:g.137219286G>T , CM000668.1:g.137219286G>T	GRCh37
NC_000006.10:g.137260979G>T	NCBI36
NG_008462.1:g.80569G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.810G>T MANE Select	ENSP00000315680.3:p.Trp270Cys
ENST00000541292.6:c.*75G>T	ENSP00000441004.1:n.*75G>T
ENST00000678002.1:c.498G>T
ENST00000678557.1:c.696G>T	ENSP00000502962.1:p.Trp232Cys
ENST00000679286.1:c.690G>T	ENSP00000503168.1:p.Trp230Cys
ENST00000318471.4:c.810G>T	ENSP00000315680.3:p.Trp270Cys
NM_000288.3:c.810G>T	NP_000279.1:p.Trp270Cys
XM_005267019.3:c.696G>T	XP_005267076.1:p.Trp232Cys
XM_006715502.1:c.516G>T	XP_006715565.1:p.Trp172Cys
XM_011535900.1:c.533G>T	XP_011534202.1:p.Gly178Val
XM_005267019.4:c.696G>T	XP_005267076.1:p.Trp232Cys
XM_006715502.2:c.516G>T	XP_006715565.1:p.Trp172Cys
XM_017010934.2:c.533G>T	XP_016866423.1:p.Gly178Val
NM_000288.4:c.810G>T MANE Select	NP_000279.1:p.Trp270Cys