Canonical Allele Identifier: CA365766863

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219375C>G (hg19) ; chr6:g.136898237C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898237C>G , CM000668.2:g.136898237C>G	GRCh38
NC_000006.11:g.137219375C>G , CM000668.1:g.137219375C>G	GRCh37
NC_000006.10:g.137261068C>G	NCBI36
NG_008462.1:g.80658C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.899C>G MANE Select	ENSP00000315680.3:p.Thr300Ser
ENST00000541292.6:c.*164C>G	ENSP00000441004.1:n.*164C>G
ENST00000678002.1:c.587C>G
ENST00000678557.1:c.785C>G	ENSP00000502962.1:p.Thr262Ser
ENST00000679286.1:c.779C>G	ENSP00000503168.1:p.Thr260Ser
ENST00000318471.4:c.899C>G	ENSP00000315680.3:p.Thr300Ser
NM_000288.3:c.899C>G	NP_000279.1:p.Thr300Ser
XM_005267019.3:c.785C>G	XP_005267076.1:p.Thr262Ser
XM_006715502.1:c.605C>G	XP_006715565.1:p.Thr202Ser
XM_005267019.4:c.785C>G	XP_005267076.1:p.Thr262Ser
XM_006715502.2:c.605C>G	XP_006715565.1:p.Thr202Ser
XM_017010934.2:c.*22C>G	XP_016866423.1:n.*22C>G
NM_000288.4:c.899C>G MANE Select	NP_000279.1:p.Thr300Ser