Canonical Allele Identifier: CA365766618

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219314G>C (hg19) ; chr6:g.136898176G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898176G>C , CM000668.2:g.136898176G>C	GRCh38
NC_000006.11:g.137219314G>C , CM000668.1:g.137219314G>C	GRCh37
NC_000006.10:g.137261007G>C	NCBI36
NG_008462.1:g.80597G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.838G>C MANE Select	ENSP00000315680.3:p.Glu280Gln
ENST00000541292.6:c.*103G>C	ENSP00000441004.1:n.*103G>C
ENST00000678002.1:c.526G>C
ENST00000678557.1:c.724G>C	ENSP00000502962.1:p.Glu242Gln
ENST00000679286.1:c.718G>C	ENSP00000503168.1:p.Glu240Gln
ENST00000318471.4:c.838G>C	ENSP00000315680.3:p.Glu280Gln
NM_000288.3:c.838G>C	NP_000279.1:p.Glu280Gln
XM_005267019.3:c.724G>C	XP_005267076.1:p.Glu242Gln
XM_006715502.1:c.544G>C	XP_006715565.1:p.Glu182Gln
XM_011535900.1:c.561G>C	XP_011534202.1:p.Leu187Phe
XM_005267019.4:c.724G>C	XP_005267076.1:p.Glu242Gln
XM_006715502.2:c.544G>C	XP_006715565.1:p.Glu182Gln
XM_017010934.2:c.561G>C	XP_016866423.1:p.Leu187Phe
NM_000288.4:c.838G>C MANE Select	NP_000279.1:p.Glu280Gln