Canonical Allele Identifier: CA452231823

Gene: PEX7

Linked Data

• gnomAD v4: 6-136898232-C-T
• MyVariant Identifiers: chr6:g.137219370C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898232C>T , CM000668.2:g.136898232C>T	GRCh38
NC_000006.11:g.137219370C>T , CM000668.1:g.137219370C>T	GRCh37
NC_000006.10:g.137261063C>T	NCBI36
NG_008462.1:g.80653C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.894C>T MANE Select	ENSP00000315680.3:p.Ser298=
ENST00000541292.6:c.*159C>T	ENSP00000441004.1:n.*159C>T
ENST00000678002.1:c.582C>T
ENST00000678557.1:c.780C>T	ENSP00000502962.1:p.Ser260=
ENST00000679286.1:c.774C>T	ENSP00000503168.1:p.Ser258=
ENST00000318471.4:c.894C>T	ENSP00000315680.3:p.Ser298=
NM_000288.3:c.894C>T	NP_000279.1:p.Ser298=
XM_005267019.3:c.780C>T	XP_005267076.1:p.Ser260=
XM_006715502.1:c.600C>T	XP_006715565.1:p.Ser200=
XM_005267019.4:c.780C>T	XP_005267076.1:p.Ser260=
XM_006715502.2:c.600C>T	XP_006715565.1:p.Ser200=
XM_017010934.2:c.*17C>T	XP_016866423.1:n.*17C>T
NM_000288.4:c.894C>T MANE Select	NP_000279.1:p.Ser298=