Canonical Allele Identifier: CA365764479

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137193382T>G (hg19) ; chr6:g.136872244T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136872244T>G , CM000668.2:g.136872244T>G	GRCh38
NC_000006.11:g.137193382T>G , CM000668.1:g.137193382T>G	GRCh37
NC_000006.10:g.137235075T>G	NCBI36
NG_008462.1:g.54665T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.794T>G MANE Select	ENSP00000315680.3:p.Phe265Cys
ENST00000541292.6:c.*59T>G	ENSP00000441004.1:n.*59T>G
ENST00000678002.1:c.482T>G
ENST00000678557.1:c.680T>G	ENSP00000502962.1:p.Phe227Cys
ENST00000678593.1:c.799T>G	ENSP00000503841.1:n.799T>G
ENST00000679286.1:c.674T>G	ENSP00000503168.1:p.Phe225Cys
ENST00000318471.4:c.794T>G	ENSP00000315680.3:p.Phe265Cys
NM_000288.3:c.794T>G	NP_000279.1:p.Phe265Cys
XM_005267019.3:c.680T>G	XP_005267076.1:p.Phe227Cys
XM_006715502.1:c.500T>G	XP_006715565.1:p.Phe167Cys
XM_011535900.1:c.527-25898T>G	XP_011534202.1:n.527-25898T>G
XM_005267019.4:c.680T>G	XP_005267076.1:p.Phe227Cys
XM_006715502.2:c.500T>G	XP_006715565.1:p.Phe167Cys
XM_017010934.2:c.527-25898T>G	XP_016866423.1:n.527-25898T>G
NM_000288.4:c.794T>G MANE Select	NP_000279.1:p.Phe265Cys