Canonical Allele Identifier: CA365766690

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219332A>T (hg19) ; chr6:g.136898194A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898194A>T , CM000668.2:g.136898194A>T	GRCh38
NC_000006.11:g.137219332A>T , CM000668.1:g.137219332A>T	GRCh37
NC_000006.10:g.137261025A>T	NCBI36
NG_008462.1:g.80615A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.856A>T MANE Select	ENSP00000315680.3:p.Thr286Ser
ENST00000541292.6:c.*121A>T	ENSP00000441004.1:n.*121A>T
ENST00000678002.1:c.544A>T
ENST00000678557.1:c.742A>T	ENSP00000502962.1:p.Thr248Ser
ENST00000679286.1:c.736A>T	ENSP00000503168.1:p.Thr246Ser
ENST00000318471.4:c.856A>T	ENSP00000315680.3:p.Thr286Ser
NM_000288.3:c.856A>T	NP_000279.1:p.Thr286Ser
XM_005267019.3:c.742A>T	XP_005267076.1:p.Thr248Ser
XM_006715502.1:c.562A>T	XP_006715565.1:p.Thr188Ser
XM_011535900.1:c.579A>T	XP_011534202.1:p.Ile193=
XM_005267019.4:c.742A>T	XP_005267076.1:p.Thr248Ser
XM_006715502.2:c.562A>T	XP_006715565.1:p.Thr188Ser
XM_017010934.2:c.579A>T	XP_016866423.1:p.Ile193=
NM_000288.4:c.856A>T MANE Select	NP_000279.1:p.Thr286Ser