Canonical Allele Identifier: CA365766765

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219351T>C (hg19) ; chr6:g.136898213T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898213T>C , CM000668.2:g.136898213T>C	GRCh38
NC_000006.11:g.137219351T>C , CM000668.1:g.137219351T>C	GRCh37
NC_000006.10:g.137261044T>C	NCBI36
NG_008462.1:g.80634T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.875T>C MANE Select	ENSP00000315680.3:p.Leu292Ser
ENST00000541292.6:c.*140T>C	ENSP00000441004.1:n.*140T>C
ENST00000678002.1:c.563T>C
ENST00000678557.1:c.761T>C	ENSP00000502962.1:p.Leu254Ser
ENST00000679286.1:c.755T>C	ENSP00000503168.1:p.Leu252Ser
ENST00000318471.4:c.875T>C	ENSP00000315680.3:p.Leu292Ser
NM_000288.3:c.875T>C	NP_000279.1:p.Leu292Ser
XM_005267019.3:c.761T>C	XP_005267076.1:p.Leu254Ser
XM_006715502.1:c.581T>C	XP_006715565.1:p.Leu194Ser
XM_011535900.1:c.598T>C	XP_011534202.1:p.Ter200Gln
XM_005267019.4:c.761T>C	XP_005267076.1:p.Leu254Ser
XM_006715502.2:c.581T>C	XP_006715565.1:p.Leu194Ser
XM_017010934.2:c.598T>C	XP_016866423.1:p.Ter200Gln
NM_000288.4:c.875T>C MANE Select	NP_000279.1:p.Leu292Ser