Canonical Allele Identifier: CA365762887

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137187795A>C (hg19) ; chr6:g.136866657A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136866657A>C , CM000668.2:g.136866657A>C	GRCh38
NC_000006.11:g.137187795A>C , CM000668.1:g.137187795A>C	GRCh37
NC_000006.10:g.137229488A>C	NCBI36
NG_008462.1:g.49078A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.557A>C MANE Select	ENSP00000315680.3:p.Lys186Thr
ENST00000541292.6:c.557A>C	ENSP00000441004.1:p.Lys186Thr
ENST00000678002.1:c.245A>C
ENST00000678557.1:c.443A>C	ENSP00000502962.1:p.Lys148Thr
ENST00000678593.1:c.562A>C	ENSP00000503841.1:n.562A>C
ENST00000679286.1:c.437A>C	ENSP00000503168.1:p.Lys146Thr
ENST00000318471.4:c.557A>C	ENSP00000315680.3:p.Lys186Thr
ENST00000541292.5:c.557A>C	ENSP00000441004.1:p.Lys186Thr
NM_000288.3:c.557A>C	NP_000279.1:p.Lys186Thr
XM_005267019.3:c.443A>C	XP_005267076.1:p.Lys148Thr
XM_006715502.1:c.340-3233A>C	XP_006715565.1:n.340-3233A>C
XM_011535900.1:c.526+20476A>C	XP_011534202.1:n.526+20476A>C
XM_005267019.4:c.443A>C	XP_005267076.1:p.Lys148Thr
XM_006715502.2:c.340-3233A>C	XP_006715565.1:n.340-3233A>C
XM_017010934.2:c.526+20476A>C	XP_016866423.1:n.526+20476A>C
NM_000288.4:c.557A>C MANE Select	NP_000279.1:p.Lys186Thr