Canonical Allele Identifier: CA4017550

Gene: PEX7

Linked Data

• ClinVar Variation Id: 2146631
• ClinVar RCV Id: RCV003074658
• dbSNP Id: rs545635665
• ExAC: 6:137147588 A / G
• gnomAD v2: 6-137147588-A-G
• gnomAD v3: 6-136826450-A-G
• gnomAD v4: 6-136826450-A-G
• MyVariant Identifiers: chr6:g.137147588A>G (hg19) ; chr6:g.136826450A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826450A>G , CM000668.2:g.136826450A>G	GRCh38
NC_000006.11:g.137147588A>G , CM000668.1:g.137147588A>G	GRCh37
NC_000006.10:g.137189281A>G	NCBI36
NG_008462.1:g.8871A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.320A>G MANE Select	ENSP00000315680.3:p.Tyr107Cys
ENST00000541292.6:c.320A>G	ENSP00000441004.1:p.Tyr107Cys
ENST00000678002.1:c.195A>G
ENST00000678557.1:c.206A>G	ENSP00000502962.1:p.Tyr69Cys
ENST00000678593.1:c.325A>G	ENSP00000503841.1:n.325A>G
ENST00000679286.1:c.200A>G	ENSP00000503168.1:p.Tyr67Cys
ENST00000318471.4:c.320A>G	ENSP00000315680.3:p.Tyr107Cys
ENST00000367756.8:c.320A>G	ENSP00000356730.4:p.Tyr107Cys
ENST00000541292.5:c.320A>G	ENSP00000441004.1:p.Tyr107Cys
NM_000288.3:c.320A>G	NP_000279.1:p.Tyr107Cys
XM_005267019.3:c.206A>G	XP_005267076.1:p.Tyr69Cys
XM_006715502.1:c.320A>G	XP_006715565.1:p.Tyr107Cys
XM_011535900.1:c.320A>G	XP_011534202.1:p.Tyr107Cys
XM_005267019.4:c.206A>G	XP_005267076.1:p.Tyr69Cys
XM_006715502.2:c.320A>G	XP_006715565.1:p.Tyr107Cys
XM_017010934.2:c.320A>G	XP_016866423.1:p.Tyr107Cys
NM_000288.4:c.320A>G MANE Select	NP_000279.1:p.Tyr107Cys