Canonical Allele Identifier: CA365766730

Gene: PEX7

Linked Data

• gnomAD v4: 6-136898203-A-G
• MyVariant Identifiers: chr6:g.137219341A>G (hg19) ; chr6:g.136898203A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898203A>G , CM000668.2:g.136898203A>G	GRCh38
NC_000006.11:g.137219341A>G , CM000668.1:g.137219341A>G	GRCh37
NC_000006.10:g.137261034A>G	NCBI36
NG_008462.1:g.80624A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.865A>G MANE Select	ENSP00000315680.3:p.Thr289Ala
ENST00000541292.6:c.*130A>G	ENSP00000441004.1:n.*130A>G
ENST00000678002.1:c.553A>G
ENST00000678557.1:c.751A>G	ENSP00000502962.1:p.Thr251Ala
ENST00000679286.1:c.745A>G	ENSP00000503168.1:p.Thr249Ala
ENST00000318471.4:c.865A>G	ENSP00000315680.3:p.Thr289Ala
NM_000288.3:c.865A>G	NP_000279.1:p.Thr289Ala
XM_005267019.3:c.751A>G	XP_005267076.1:p.Thr251Ala
XM_006715502.1:c.571A>G	XP_006715565.1:p.Thr191Ala
XM_011535900.1:c.588A>G	XP_011534202.1:p.Leu196=
XM_005267019.4:c.751A>G	XP_005267076.1:p.Thr251Ala
XM_006715502.2:c.571A>G	XP_006715565.1:p.Thr191Ala
XM_017010934.2:c.588A>G	XP_016866423.1:p.Leu196=
NM_000288.4:c.865A>G MANE Select	NP_000279.1:p.Thr289Ala