Canonical Allele Identifier: CA365766550

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137219291T>A (hg19) ; chr6:g.136898153T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136898153T>A , CM000668.2:g.136898153T>A	GRCh38
NC_000006.11:g.137219291T>A , CM000668.1:g.137219291T>A	GRCh37
NC_000006.10:g.137260984T>A	NCBI36
NG_008462.1:g.80574T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.815T>A MANE Select	ENSP00000315680.3:p.Phe272Tyr
ENST00000541292.6:c.*80T>A	ENSP00000441004.1:n.*80T>A
ENST00000678002.1:c.503T>A
ENST00000678557.1:c.701T>A	ENSP00000502962.1:p.Phe234Tyr
ENST00000679286.1:c.695T>A	ENSP00000503168.1:p.Phe232Tyr
ENST00000318471.4:c.815T>A	ENSP00000315680.3:p.Phe272Tyr
NM_000288.3:c.815T>A	NP_000279.1:p.Phe272Tyr
XM_005267019.3:c.701T>A	XP_005267076.1:p.Phe234Tyr
XM_006715502.1:c.521T>A	XP_006715565.1:p.Phe174Tyr
XM_011535900.1:c.538T>A	XP_011534202.1:p.Phe180Ile
XM_005267019.4:c.701T>A	XP_005267076.1:p.Phe234Tyr
XM_006715502.2:c.521T>A	XP_006715565.1:p.Phe174Tyr
XM_017010934.2:c.538T>A	XP_016866423.1:p.Phe180Ile
NM_000288.4:c.815T>A MANE Select	NP_000279.1:p.Phe272Tyr