Canonical Allele Identifier: CA365764454

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137193371C>G (hg19) ; chr6:g.136872233C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872233C>G , CM000668.2:g.136872233C>G	GRCh38
NC_000006.11:g.137193371C>G , CM000668.1:g.137193371C>G	GRCh37
NC_000006.10:g.137235064C>G	NCBI36
NG_008462.1:g.54654C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.783C>G MANE Select	ENSP00000315680.3:p.Cys261Trp
ENST00000541292.6:c.*48C>G	ENSP00000441004.1:n.*48C>G
ENST00000678002.1:c.471C>G
ENST00000678557.1:c.669C>G	ENSP00000502962.1:p.Cys223Trp
ENST00000678593.1:c.788C>G	ENSP00000503841.1:n.788C>G
ENST00000679286.1:c.663C>G	ENSP00000503168.1:p.Cys221Trp
ENST00000318471.4:c.783C>G	ENSP00000315680.3:p.Cys261Trp
NM_000288.3:c.783C>G	NP_000279.1:p.Cys261Trp
XM_005267019.3:c.669C>G	XP_005267076.1:p.Cys223Trp
XM_006715502.1:c.489C>G	XP_006715565.1:p.Cys163Trp
XM_011535900.1:c.527-25909C>G	XP_011534202.1:n.527-25909C>G
XM_005267019.4:c.669C>G	XP_005267076.1:p.Cys223Trp
XM_006715502.2:c.489C>G	XP_006715565.1:p.Cys163Trp
XM_017010934.2:c.527-25909C>G	XP_016866423.1:n.527-25909C>G
NM_000288.4:c.783C>G MANE Select	NP_000279.1:p.Cys261Trp