Canonical Allele Identifier: CA365766552

Gene: PEX7

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.815T>G MANE Select	ENSP00000315680.3:p.Phe272Cys
ENST00000541292.6:c.*80T>G	ENSP00000441004.1:n.*80T>G
ENST00000678002.1:c.503T>G
ENST00000678557.1:c.701T>G	ENSP00000502962.1:p.Phe234Cys
ENST00000679286.1:c.695T>G	ENSP00000503168.1:p.Phe232Cys
ENST00000318471.4:c.815T>G	ENSP00000315680.3:p.Phe272Cys
NM_000288.3:c.815T>G	NP_000279.1:p.Phe272Cys
XM_005267019.3:c.701T>G	XP_005267076.1:p.Phe234Cys
XM_006715502.1:c.521T>G	XP_006715565.1:p.Phe174Cys
XM_011535900.1:c.538T>G	XP_011534202.1:p.Phe180Val
XM_005267019.4:c.701T>G	XP_005267076.1:p.Phe234Cys
XM_006715502.2:c.521T>G	XP_006715565.1:p.Phe174Cys
XM_017010934.2:c.538T>G	XP_016866423.1:p.Phe180Val
NM_000288.4:c.815T>G MANE Select	NP_000279.1:p.Phe272Cys