Canonical Allele Identifier: CA452231803

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219334A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898196A>C , CM000668.2:g.136898196A>C	GRCh38
NC_000006.11:g.137219334A>C , CM000668.1:g.137219334A>C	GRCh37
NC_000006.10:g.137261027A>C	NCBI36
NG_008462.1:g.80617A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.858A>C MANE Select	ENSP00000315680.3:p.Thr286=
ENST00000541292.6:c.*123A>C	ENSP00000441004.1:n.*123A>C
ENST00000678002.1:c.546A>C
ENST00000678557.1:c.744A>C	ENSP00000502962.1:p.Thr248=
ENST00000679286.1:c.738A>C	ENSP00000503168.1:p.Thr246=
ENST00000318471.4:c.858A>C	ENSP00000315680.3:p.Thr286=
NM_000288.3:c.858A>C	NP_000279.1:p.Thr286=
XM_005267019.3:c.744A>C	XP_005267076.1:p.Thr248=
XM_006715502.1:c.564A>C	XP_006715565.1:p.Thr188=
XM_011535900.1:c.581A>C	XP_011534202.1:p.Gln194Pro
XM_005267019.4:c.744A>C	XP_005267076.1:p.Thr248=
XM_006715502.2:c.564A>C	XP_006715565.1:p.Thr188=
XM_017010934.2:c.581A>C	XP_016866423.1:p.Gln194Pro
NM_000288.4:c.858A>C MANE Select	NP_000279.1:p.Thr286=