Canonical Allele Identifier: CA4017548

Gene: PEX7

Linked Data

• ClinVar Variation Id: 2201504
• ClinVar RCV Id: RCV002629695 ; RCV002629694
• dbSNP Id: rs372623057
• ExAC: 6:137147581 C / A
• gnomAD v2: 6-137147581-C-A
• gnomAD v3: 6-136826443-C-A
• gnomAD v4: 6-136826443-C-A
• MyVariant Identifiers: chr6:g.137147581C>A (hg19) ; chr6:g.136826443C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.136826443C>A , CM000668.2:g.136826443C>A	GRCh38
NC_000006.11:g.137147581C>A , CM000668.1:g.137147581C>A	GRCh37
NC_000006.10:g.137189274C>A	NCBI36
NG_008462.1:g.8864C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000318471.5:c.313C>A MANE Select	ENSP00000315680.3:p.Gln105Lys
ENST00000541292.6:c.313C>A	ENSP00000441004.1:p.Gln105Lys
ENST00000678002.1:c.188C>A
ENST00000678557.1:c.199C>A	ENSP00000502962.1:p.Gln67Lys
ENST00000678593.1:c.318C>A	ENSP00000503841.1:n.318C>A
ENST00000679286.1:c.193C>A	ENSP00000503168.1:p.Gln65Lys
ENST00000318471.4:c.313C>A	ENSP00000315680.3:p.Gln105Lys
ENST00000367756.8:c.313C>A	ENSP00000356730.4:p.Gln105Lys
ENST00000541292.5:c.313C>A	ENSP00000441004.1:p.Gln105Lys
NM_000288.3:c.313C>A	NP_000279.1:p.Gln105Lys
XM_005267019.3:c.199C>A	XP_005267076.1:p.Gln67Lys
XM_006715502.1:c.313C>A	XP_006715565.1:p.Gln105Lys
XM_011535900.1:c.313C>A	XP_011534202.1:p.Gln105Lys
XM_005267019.4:c.199C>A	XP_005267076.1:p.Gln67Lys
XM_006715502.2:c.313C>A	XP_006715565.1:p.Gln105Lys
XM_017010934.2:c.313C>A	XP_016866423.1:p.Gln105Lys
NM_000288.4:c.313C>A MANE Select	NP_000279.1:p.Gln105Lys