Canonical Allele Identifier: CA452231820

Gene: PEX7

Linked Data

• gnomAD v4: 6-136898226-T-C
• MyVariant Identifiers: chr6:g.137219364T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898226T>C , CM000668.2:g.136898226T>C	GRCh38
NC_000006.11:g.137219364T>C , CM000668.1:g.137219364T>C	GRCh37
NC_000006.10:g.137261057T>C	NCBI36
NG_008462.1:g.80647T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.888T>C MANE Select	ENSP00000315680.3:p.Leu296=
ENST00000541292.6:c.*153T>C	ENSP00000441004.1:n.*153T>C
ENST00000678002.1:c.576T>C
ENST00000678557.1:c.774T>C	ENSP00000502962.1:p.Leu258=
ENST00000679286.1:c.768T>C	ENSP00000503168.1:p.Leu256=
ENST00000318471.4:c.888T>C	ENSP00000315680.3:p.Leu296=
NM_000288.3:c.888T>C	NP_000279.1:p.Leu296=
XM_005267019.3:c.774T>C	XP_005267076.1:p.Leu258=
XM_006715502.1:c.594T>C	XP_006715565.1:p.Leu198=
XM_005267019.4:c.774T>C	XP_005267076.1:p.Leu258=
XM_006715502.2:c.594T>C	XP_006715565.1:p.Leu198=
XM_017010934.2:c.*11T>C	XP_016866423.1:n.*11T>C
NM_000288.4:c.888T>C MANE Select	NP_000279.1:p.Leu296=