Canonical Allele Identifier: CA365764391

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137193339T>G (hg19) ; chr6:g.136872201T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872201T>G , CM000668.2:g.136872201T>G	GRCh38
NC_000006.11:g.137193339T>G , CM000668.1:g.137193339T>G	GRCh37
NC_000006.10:g.137235032T>G	NCBI36
NG_008462.1:g.54622T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.751T>G MANE Select	ENSP00000315680.3:p.Ser251Ala
ENST00000541292.6:c.*16T>G	ENSP00000441004.1:n.*16T>G
ENST00000678002.1:c.439T>G
ENST00000678557.1:c.637T>G	ENSP00000502962.1:p.Ser213Ala
ENST00000678593.1:c.756T>G	ENSP00000503841.1:n.756T>G
ENST00000679286.1:c.631T>G	ENSP00000503168.1:p.Ser211Ala
ENST00000318471.4:c.751T>G	ENSP00000315680.3:p.Ser251Ala
NM_000288.3:c.751T>G	NP_000279.1:p.Ser251Ala
XM_005267019.3:c.637T>G	XP_005267076.1:p.Ser213Ala
XM_006715502.1:c.457T>G	XP_006715565.1:p.Ser153Ala
XM_011535900.1:c.527-25941T>G	XP_011534202.1:n.527-25941T>G
XM_005267019.4:c.637T>G	XP_005267076.1:p.Ser213Ala
XM_006715502.2:c.457T>G	XP_006715565.1:p.Ser153Ala
XM_017010934.2:c.527-25941T>G	XP_016866423.1:n.527-25941T>G
NM_000288.4:c.751T>G MANE Select	NP_000279.1:p.Ser251Ala