Canonical Allele Identifier: CA452231824

Gene: PEX7

Linked Data

• gnomAD v4: 6-136898235-C-A
• MyVariant Identifiers: chr6:g.137219373C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898235C>A , CM000668.2:g.136898235C>A	GRCh38
NC_000006.11:g.137219373C>A , CM000668.1:g.137219373C>A	GRCh37
NC_000006.10:g.137261066C>A	NCBI36
NG_008462.1:g.80656C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.897C>A MANE Select	ENSP00000315680.3:p.Pro299=
ENST00000541292.6:c.*162C>A	ENSP00000441004.1:n.*162C>A
ENST00000678002.1:c.585C>A
ENST00000678557.1:c.783C>A	ENSP00000502962.1:p.Pro261=
ENST00000679286.1:c.777C>A	ENSP00000503168.1:p.Pro259=
ENST00000318471.4:c.897C>A	ENSP00000315680.3:p.Pro299=
NM_000288.3:c.897C>A	NP_000279.1:p.Pro299=
XM_005267019.3:c.783C>A	XP_005267076.1:p.Pro261=
XM_006715502.1:c.603C>A	XP_006715565.1:p.Pro201=
XM_005267019.4:c.783C>A	XP_005267076.1:p.Pro261=
XM_006715502.2:c.603C>A	XP_006715565.1:p.Pro201=
XM_017010934.2:c.*20C>A	XP_016866423.1:n.*20C>A
NM_000288.4:c.897C>A MANE Select	NP_000279.1:p.Pro299=