Canonical Allele Identifier: CA365766630

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219317A>C (hg19) ; chr6:g.136898179A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898179A>C , CM000668.2:g.136898179A>C	GRCh38
NC_000006.11:g.137219317A>C , CM000668.1:g.137219317A>C	GRCh37
NC_000006.10:g.137261010A>C	NCBI36
NG_008462.1:g.80600A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.841A>C MANE Select	ENSP00000315680.3:p.Thr281Pro
ENST00000541292.6:c.*106A>C	ENSP00000441004.1:n.*106A>C
ENST00000678002.1:c.529A>C
ENST00000678557.1:c.727A>C	ENSP00000502962.1:p.Thr243Pro
ENST00000679286.1:c.721A>C	ENSP00000503168.1:p.Thr241Pro
ENST00000318471.4:c.841A>C	ENSP00000315680.3:p.Thr281Pro
NM_000288.3:c.841A>C	NP_000279.1:p.Thr281Pro
XM_005267019.3:c.727A>C	XP_005267076.1:p.Thr243Pro
XM_006715502.1:c.547A>C	XP_006715565.1:p.Thr183Pro
XM_011535900.1:c.564A>C	XP_011534202.1:p.Lys188Asn
XM_005267019.4:c.727A>C	XP_005267076.1:p.Thr243Pro
XM_006715502.2:c.547A>C	XP_006715565.1:p.Thr183Pro
XM_017010934.2:c.564A>C	XP_016866423.1:p.Lys188Asn
NM_000288.4:c.841A>C MANE Select	NP_000279.1:p.Thr281Pro