Canonical Allele Identifier: CA365766546

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219289C>G (hg19) ; chr6:g.136898151C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898151C>G , CM000668.2:g.136898151C>G	GRCh38
NC_000006.11:g.137219289C>G , CM000668.1:g.137219289C>G	GRCh37
NC_000006.10:g.137260982C>G	NCBI36
NG_008462.1:g.80572C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.813C>G MANE Select	ENSP00000315680.3:p.Asn271Lys
ENST00000541292.6:c.*78C>G	ENSP00000441004.1:n.*78C>G
ENST00000678002.1:c.501C>G
ENST00000678557.1:c.699C>G	ENSP00000502962.1:p.Asn233Lys
ENST00000679286.1:c.693C>G	ENSP00000503168.1:p.Asn231Lys
ENST00000318471.4:c.813C>G	ENSP00000315680.3:p.Asn271Lys
NM_000288.3:c.813C>G	NP_000279.1:p.Asn271Lys
XM_005267019.3:c.699C>G	XP_005267076.1:p.Asn233Lys
XM_006715502.1:c.519C>G	XP_006715565.1:p.Asn173Lys
XM_011535900.1:c.536C>G	XP_011534202.1:p.Thr179Ser
XM_005267019.4:c.699C>G	XP_005267076.1:p.Asn233Lys
XM_006715502.2:c.519C>G	XP_006715565.1:p.Asn173Lys
XM_017010934.2:c.536C>G	XP_016866423.1:p.Thr179Ser
NM_000288.4:c.813C>G MANE Select	NP_000279.1:p.Asn271Lys