Canonical Allele Identifier: CA365856031

Gene: PEX7

Linked Data

• COSMIC: COSM246549
• MyVariant Identifiers: chr6:g.137147605G>C (hg19) ; chr6:g.136826467G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826467G>C , CM000668.2:g.136826467G>C	GRCh38
NC_000006.11:g.137147605G>C , CM000668.1:g.137147605G>C	GRCh37
NC_000006.10:g.137189298G>C	NCBI36
NG_008462.1:g.8888G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.337G>C MANE Select	ENSP00000315680.3:p.Glu113Gln
ENST00000541292.6:c.337G>C	ENSP00000441004.1:p.Glu113Gln
ENST00000678002.1:c.212G>C
ENST00000678557.1:c.223G>C	ENSP00000502962.1:p.Glu75Gln
ENST00000678593.1:c.342G>C	ENSP00000503841.1:n.342G>C
ENST00000679286.1:c.217G>C	ENSP00000503168.1:p.Glu73Gln
ENST00000318471.4:c.337G>C	ENSP00000315680.3:p.Glu113Gln
ENST00000367756.8:c.337G>C	ENSP00000356730.4:p.Glu113Gln
ENST00000541292.5:c.337G>C	ENSP00000441004.1:p.Glu113Gln
NM_000288.3:c.337G>C	NP_000279.1:p.Glu113Gln
XM_005267019.3:c.223G>C	XP_005267076.1:p.Glu75Gln
XM_006715502.1:c.337G>C	XP_006715565.1:p.Glu113Gln
XM_011535900.1:c.337G>C	XP_011534202.1:p.Glu113Gln
XM_005267019.4:c.223G>C	XP_005267076.1:p.Glu75Gln
XM_006715502.2:c.337G>C	XP_006715565.1:p.Glu113Gln
XM_017010934.2:c.337G>C	XP_016866423.1:p.Glu113Gln
NM_000288.4:c.337G>C MANE Select	NP_000279.1:p.Glu113Gln