Canonical Allele Identifier: CA452231807

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219340T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898202T>C , CM000668.2:g.136898202T>C	GRCh38
NC_000006.11:g.137219340T>C , CM000668.1:g.137219340T>C	GRCh37
NC_000006.10:g.137261033T>C	NCBI36
NG_008462.1:g.80623T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.864T>C MANE Select	ENSP00000315680.3:p.Phe288=
ENST00000541292.6:c.*129T>C	ENSP00000441004.1:n.*129T>C
ENST00000678002.1:c.552T>C
ENST00000678557.1:c.750T>C	ENSP00000502962.1:p.Phe250=
ENST00000679286.1:c.744T>C	ENSP00000503168.1:p.Phe248=
ENST00000318471.4:c.864T>C	ENSP00000315680.3:p.Phe288=
NM_000288.3:c.864T>C	NP_000279.1:p.Phe288=
XM_005267019.3:c.750T>C	XP_005267076.1:p.Phe250=
XM_006715502.1:c.570T>C	XP_006715565.1:p.Phe190=
XM_011535900.1:c.587T>C	XP_011534202.1:p.Leu196Ser
XM_005267019.4:c.750T>C	XP_005267076.1:p.Phe250=
XM_006715502.2:c.570T>C	XP_006715565.1:p.Phe190=
XM_017010934.2:c.587T>C	XP_016866423.1:p.Leu196Ser
NM_000288.4:c.864T>C MANE Select	NP_000279.1:p.Phe288=