Canonical Allele Identifier: CA452227929

Gene: PEX7

Linked Data

• gnomAD v4: 6-136870000-G-A
• MyVariant Identifiers: chr6:g.137191138G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136870000G>A , CM000668.2:g.136870000G>A	GRCh38
NC_000006.11:g.137191138G>A , CM000668.1:g.137191138G>A	GRCh37
NC_000006.10:g.137232831G>A	NCBI36
NG_008462.1:g.52421G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.744G>A MANE Select	ENSP00000315680.3:p.Val248=
ENST00000541292.6:c.744G>A	ENSP00000441004.1:p.Val248=
ENST00000678002.1:c.432G>A
ENST00000678557.1:c.630G>A	ENSP00000502962.1:p.Val210=
ENST00000678593.1:c.749G>A	ENSP00000503841.1:n.749G>A
ENST00000679286.1:c.624G>A	ENSP00000503168.1:p.Val208=
ENST00000318471.4:c.744G>A	ENSP00000315680.3:p.Val248=
ENST00000541292.5:c.744G>A	ENSP00000441004.1:p.Val248=
NM_000288.3:c.744G>A	NP_000279.1:p.Val248=
XM_005267019.3:c.630G>A	XP_005267076.1:p.Val210=
XM_006715502.1:c.450G>A	XP_006715565.1:p.Val150=
XM_011535900.1:c.526+23819G>A	XP_011534202.1:n.526+23819G>A
XM_005267019.4:c.630G>A	XP_005267076.1:p.Val210=
XM_006715502.2:c.450G>A	XP_006715565.1:p.Val150=
XM_017010934.2:c.526+23819G>A	XP_016866423.1:n.526+23819G>A
NM_000288.4:c.744G>A MANE Select	NP_000279.1:p.Val248=