Canonical Allele Identifier: CA365855712

Gene: PEX7

Linked Data

• MyVariant Identifiers: chr6:g.137147458T>G (hg19) ; chr6:g.136826320T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826320T>G , CM000668.2:g.136826320T>G	GRCh38
NC_000006.11:g.137147458T>G , CM000668.1:g.137147458T>G	GRCh37
NC_000006.10:g.137189151T>G	NCBI36
NG_008462.1:g.8741T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000318471.5:c.190T>G MANE Select	ENSP00000315680.3:p.Phe64Val
ENST00000541292.6:c.190T>G	ENSP00000441004.1:p.Phe64Val
ENST00000678002.1:c.65T>G
ENST00000678557.1:c.76T>G	ENSP00000502962.1:p.Phe26Val
ENST00000678593.1:c.195T>G	ENSP00000503841.1:p.Ala65=
ENST00000679286.1:c.70T>G	ENSP00000503168.1:p.Phe24Val
ENST00000318471.4:c.190T>G	ENSP00000315680.3:p.Phe64Val
ENST00000367756.8:c.190T>G	ENSP00000356730.4:p.Phe64Val
ENST00000541292.5:c.190T>G	ENSP00000441004.1:p.Phe64Val
NM_000288.3:c.190T>G	NP_000279.1:p.Phe64Val
XM_005267019.3:c.76T>G	XP_005267076.1:p.Phe26Val
XM_006715502.1:c.190T>G	XP_006715565.1:p.Phe64Val
XM_011535900.1:c.190T>G	XP_011534202.1:p.Phe64Val
XM_005267019.4:c.76T>G	XP_005267076.1:p.Phe26Val
XM_006715502.2:c.190T>G	XP_006715565.1:p.Phe64Val
XM_017010934.2:c.190T>G	XP_016866423.1:p.Phe64Val
NM_000288.4:c.190T>G MANE Select	NP_000279.1:p.Phe64Val