Canonical Allele Identifier: CA365766835

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219368A>G (hg19) ; chr6:g.136898230A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898230A>G , CM000668.2:g.136898230A>G	GRCh38
NC_000006.11:g.137219368A>G , CM000668.1:g.137219368A>G	GRCh37
NC_000006.10:g.137261061A>G	NCBI36
NG_008462.1:g.80651A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.892A>G MANE Select	ENSP00000315680.3:p.Ser298Gly
ENST00000541292.6:c.*157A>G	ENSP00000441004.1:n.*157A>G
ENST00000678002.1:c.580A>G
ENST00000678557.1:c.778A>G	ENSP00000502962.1:p.Ser260Gly
ENST00000679286.1:c.772A>G	ENSP00000503168.1:p.Ser258Gly
ENST00000318471.4:c.892A>G	ENSP00000315680.3:p.Ser298Gly
NM_000288.3:c.892A>G	NP_000279.1:p.Ser298Gly
XM_005267019.3:c.778A>G	XP_005267076.1:p.Ser260Gly
XM_006715502.1:c.598A>G	XP_006715565.1:p.Ser200Gly
XM_005267019.4:c.778A>G	XP_005267076.1:p.Ser260Gly
XM_006715502.2:c.598A>G	XP_006715565.1:p.Ser200Gly
XM_017010934.2:c.*15A>G	XP_016866423.1:n.*15A>G
NM_000288.4:c.892A>G MANE Select	NP_000279.1:p.Ser298Gly