Canonical Allele Identifier: CA365766539

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219287A>T (hg19) ; chr6:g.136898149A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898149A>T , CM000668.2:g.136898149A>T	GRCh38
NC_000006.11:g.137219287A>T , CM000668.1:g.137219287A>T	GRCh37
NC_000006.10:g.137260980A>T	NCBI36
NG_008462.1:g.80570A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.811A>T MANE Select	ENSP00000315680.3:p.Asn271Tyr
ENST00000541292.6:c.*76A>T	ENSP00000441004.1:n.*76A>T
ENST00000678002.1:c.499A>T
ENST00000678557.1:c.697A>T	ENSP00000502962.1:p.Asn233Tyr
ENST00000679286.1:c.691A>T	ENSP00000503168.1:p.Asn231Tyr
ENST00000318471.4:c.811A>T	ENSP00000315680.3:p.Asn271Tyr
NM_000288.3:c.811A>T	NP_000279.1:p.Asn271Tyr
XM_005267019.3:c.697A>T	XP_005267076.1:p.Asn233Tyr
XM_006715502.1:c.517A>T	XP_006715565.1:p.Asn173Tyr
XM_011535900.1:c.534A>T	XP_011534202.1:p.Gly178=
XM_005267019.4:c.697A>T	XP_005267076.1:p.Asn233Tyr
XM_006715502.2:c.517A>T	XP_006715565.1:p.Asn173Tyr
XM_017010934.2:c.534A>T	XP_016866423.1:p.Gly178=
NM_000288.4:c.811A>T MANE Select	NP_000279.1:p.Asn271Tyr