Canonical Allele Identifier: CA365855741

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137147470G>T (hg19) ; chr6:g.136826332G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826332G>T , CM000668.2:g.136826332G>T	GRCh38
NC_000006.11:g.137147470G>T , CM000668.1:g.137147470G>T	GRCh37
NC_000006.10:g.137189163G>T	NCBI36
NG_008462.1:g.8753G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.202G>T MANE Select	ENSP00000315680.3:p.Asp68Tyr
ENST00000541292.6:c.202G>T	ENSP00000441004.1:p.Asp68Tyr
ENST00000678002.1:c.77G>T
ENST00000678557.1:c.88G>T	ENSP00000502962.1:p.Asp30Tyr
ENST00000678593.1:c.207G>T	ENSP00000503841.1:p.Met69Ile
ENST00000679286.1:c.82G>T	ENSP00000503168.1:p.Asp28Tyr
ENST00000318471.4:c.202G>T	ENSP00000315680.3:p.Asp68Tyr
ENST00000367756.8:c.202G>T	ENSP00000356730.4:p.Asp68Tyr
ENST00000541292.5:c.202G>T	ENSP00000441004.1:p.Asp68Tyr
NM_000288.3:c.202G>T	NP_000279.1:p.Asp68Tyr
XM_005267019.3:c.88G>T	XP_005267076.1:p.Asp30Tyr
XM_006715502.1:c.202G>T	XP_006715565.1:p.Asp68Tyr
XM_011535900.1:c.202G>T	XP_011534202.1:p.Asp68Tyr
XM_005267019.4:c.88G>T	XP_005267076.1:p.Asp30Tyr
XM_006715502.2:c.202G>T	XP_006715565.1:p.Asp68Tyr
XM_017010934.2:c.202G>T	XP_016866423.1:p.Asp68Tyr
NM_000288.4:c.202G>T MANE Select	NP_000279.1:p.Asp68Tyr