Canonical Allele Identifier: CA365766768

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219352A>C (hg19) ; chr6:g.136898214A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898214A>C , CM000668.2:g.136898214A>C	GRCh38
NC_000006.11:g.137219352A>C , CM000668.1:g.137219352A>C	GRCh37
NC_000006.10:g.137261045A>C	NCBI36
NG_008462.1:g.80635A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.876A>C MANE Select	ENSP00000315680.3:p.Leu292Phe
ENST00000541292.6:c.*141A>C	ENSP00000441004.1:n.*141A>C
ENST00000678002.1:c.564A>C
ENST00000678557.1:c.762A>C	ENSP00000502962.1:p.Leu254Phe
ENST00000679286.1:c.756A>C	ENSP00000503168.1:p.Leu252Phe
ENST00000318471.4:c.876A>C	ENSP00000315680.3:p.Leu292Phe
NM_000288.3:c.876A>C	NP_000279.1:p.Leu292Phe
XM_005267019.3:c.762A>C	XP_005267076.1:p.Leu254Phe
XM_006715502.1:c.582A>C	XP_006715565.1:p.Leu194Phe
XM_011535900.1:c.599A>C	XP_011534202.1:p.Ter200Ser
XM_005267019.4:c.762A>C	XP_005267076.1:p.Leu254Phe
XM_006715502.2:c.582A>C	XP_006715565.1:p.Leu194Phe
XM_017010934.2:c.599A>C	XP_016866423.1:p.Ter200Ser
NM_000288.4:c.876A>C MANE Select	NP_000279.1:p.Leu292Phe