Canonical Allele Identifier: CA452227878

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137191054C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136869916C>T , CM000668.2:g.136869916C>T	GRCh38
NC_000006.11:g.137191054C>T , CM000668.1:g.137191054C>T	GRCh37
NC_000006.10:g.137232747C>T	NCBI36
NG_008462.1:g.52337C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.660C>T MANE Select	ENSP00000315680.3:p.Asp220=
ENST00000541292.6:c.660C>T	ENSP00000441004.1:p.Asp220=
ENST00000678002.1:c.348C>T
ENST00000678557.1:c.546C>T	ENSP00000502962.1:p.Asp182=
ENST00000678593.1:c.665C>T	ENSP00000503841.1:n.665C>T
ENST00000679286.1:c.540C>T	ENSP00000503168.1:p.Asp180=
ENST00000318471.4:c.660C>T	ENSP00000315680.3:p.Asp220=
ENST00000541292.5:c.660C>T	ENSP00000441004.1:p.Asp220=
NM_000288.3:c.660C>T	NP_000279.1:p.Asp220=
XM_005267019.3:c.546C>T	XP_005267076.1:p.Asp182=
XM_006715502.1:c.366C>T	XP_006715565.1:p.Asp122=
XM_011535900.1:c.526+23735C>T	XP_011534202.1:n.526+23735C>T
XM_005267019.4:c.546C>T	XP_005267076.1:p.Asp182=
XM_006715502.2:c.366C>T	XP_006715565.1:p.Asp122=
XM_017010934.2:c.526+23735C>T	XP_016866423.1:n.526+23735C>T
NM_000288.4:c.660C>T MANE Select	NP_000279.1:p.Asp220=