Canonical Allele Identifier: CA365856036

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137147607G>C (hg19) ; chr6:g.136826469G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826469G>C , CM000668.2:g.136826469G>C	GRCh38
NC_000006.11:g.137147607G>C , CM000668.1:g.137147607G>C	GRCh37
NC_000006.10:g.137189300G>C	NCBI36
NG_008462.1:g.8890G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.339G>C MANE Select	ENSP00000315680.3:p.Glu113Asp
ENST00000541292.6:c.339G>C	ENSP00000441004.1:p.Glu113Asp
ENST00000678002.1:c.214G>C
ENST00000678557.1:c.225G>C	ENSP00000502962.1:p.Glu75Asp
ENST00000678593.1:c.344G>C	ENSP00000503841.1:n.344G>C
ENST00000679286.1:c.219G>C	ENSP00000503168.1:p.Glu73Asp
ENST00000318471.4:c.339G>C	ENSP00000315680.3:p.Glu113Asp
ENST00000367756.8:c.339G>C	ENSP00000356730.4:p.Glu113Asp
ENST00000541292.5:c.339G>C	ENSP00000441004.1:p.Glu113Asp
NM_000288.3:c.339G>C	NP_000279.1:p.Glu113Asp
XM_005267019.3:c.225G>C	XP_005267076.1:p.Glu75Asp
XM_006715502.1:c.339G>C	XP_006715565.1:p.Glu113Asp
XM_011535900.1:c.339G>C	XP_011534202.1:p.Glu113Asp
XM_005267019.4:c.225G>C	XP_005267076.1:p.Glu75Asp
XM_006715502.2:c.339G>C	XP_006715565.1:p.Glu113Asp
XM_017010934.2:c.339G>C	XP_016866423.1:p.Glu113Asp
NM_000288.4:c.339G>C MANE Select	NP_000279.1:p.Glu113Asp