Canonical Allele Identifier: CA365766852

Gene: PEX7

Linked Data

• gnomAD v4: 6-136898234-C-T
• MyVariant Identifiers: chr6:g.137219372C>T (hg19) ; chr6:g.136898234C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898234C>T , CM000668.2:g.136898234C>T	GRCh38
NC_000006.11:g.137219372C>T , CM000668.1:g.137219372C>T	GRCh37
NC_000006.10:g.137261065C>T	NCBI36
NG_008462.1:g.80655C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.896C>T MANE Select	ENSP00000315680.3:p.Pro299Leu
ENST00000541292.6:c.*161C>T	ENSP00000441004.1:n.*161C>T
ENST00000678002.1:c.584C>T
ENST00000678557.1:c.782C>T	ENSP00000502962.1:p.Pro261Leu
ENST00000679286.1:c.776C>T	ENSP00000503168.1:p.Pro259Leu
ENST00000318471.4:c.896C>T	ENSP00000315680.3:p.Pro299Leu
NM_000288.3:c.896C>T	NP_000279.1:p.Pro299Leu
XM_005267019.3:c.782C>T	XP_005267076.1:p.Pro261Leu
XM_006715502.1:c.602C>T	XP_006715565.1:p.Pro201Leu
XM_005267019.4:c.782C>T	XP_005267076.1:p.Pro261Leu
XM_006715502.2:c.602C>T	XP_006715565.1:p.Pro201Leu
XM_017010934.2:c.*19C>T	XP_016866423.1:n.*19C>T
NM_000288.4:c.896C>T MANE Select	NP_000279.1:p.Pro299Leu