Canonical Allele Identifier: CA383737743

Gene: PEX5

Linked Data

• ClinVar Variation Id: 2978647
• ClinVar RCV Id: RCV003839293
• MyVariant Identifiers: chr12:g.7362296T>A (hg19) ; chr12:g.7209700T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.7209700T>A , CM000674.2:g.7209700T>A	GRCh38
NC_000012.11:g.7362296T>A , CM000674.1:g.7362296T>A	GRCh37
NC_000012.10:g.7253563T>A	NCBI36
NG_008448.1:g.25538T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000675855.1:c.1578T>A MANE Select	ENSP00000502374.1:p.Asn526Lys
ENST00000266563.9:c.1467T>A	ENSP00000266563.5:p.Asn489Lys
ENST00000266564.7:c.1554T>A	ENSP00000266564.3:p.Asn518Lys
ENST00000412720.6:c.1641T>A	ENSP00000391601.2:p.Asn547Lys
ENST00000420616.6:c.1578T>A	ENSP00000410159.2:p.Asn526Lys
ENST00000434354.6:c.1623T>A	ENSP00000407401.2:p.Asn541Lys
ENST00000455147.6:c.1578T>A	ENSP00000400647.2:p.Asn526Lys
NM_000319.4:c.1554T>A	NP_000310.2:p.Asn518Lys
NM_001131023.1:c.1623T>A	NP_001124495.1:p.Asn541Lys
NM_001131024.1:c.1467T>A	NP_001124496.1:p.Asn489Lys
NM_001131025.1:c.1578T>A	NP_001124497.1:p.Asn526Lys
NM_001131026.1:c.1578T>A	NP_001124498.1:p.Asn526Lys
NM_001300789.1:c.1641T>A	NP_001287718.1:p.Asn547Lys
XM_005253455.1:c.1530T>A	XP_005253512.1:p.Asn510Lys
XM_011520793.1:c.1686T>A	XP_011519095.1:p.Asn562Lys
XM_011520794.1:c.1686T>A	XP_011519096.1:p.Asn562Lys
XM_011520795.1:c.1623T>A	XP_011519097.1:p.Asn541Lys
XM_011520796.1:c.1623T>A	XP_011519098.1:p.Asn541Lys
XM_011520797.1:c.1578T>A	XP_011519099.1:p.Asn526Lys
XM_011520798.1:c.1578T>A	XP_011519100.1:p.Asn526Lys
XM_011520799.1:c.1578T>A	XP_011519101.1:p.Asn526Lys
XM_011520800.1:c.1578T>A	XP_011519102.1:p.Asn526Lys
XM_011520801.1:c.1575T>A	XP_011519103.1:p.Asn525Lys
XM_011520802.1:c.1329T>A	XP_011519104.1:p.Asn443Lys
NM_001351124.1:c.1467T>A	NP_001338053.1:p.Asn489Lys
NM_001351126.1:c.1467T>A	NP_001338055.1:p.Asn489Lys
NM_001351127.1:c.1467T>A	NP_001338056.1:p.Asn489Lys
NM_001351128.1:c.1467T>A	NP_001338057.1:p.Asn489Lys
NM_001351130.1:c.1467T>A	NP_001338059.1:p.Asn489Lys
NM_001351131.1:c.1578T>A	NP_001338060.1:p.Asn526Lys
NM_001351132.1:c.1578T>A	NP_001338061.1:p.Asn526Lys
NM_001351133.1:c.1578T>A	NP_001338062.1:p.Asn526Lys
NM_001351134.1:c.1578T>A	NP_001338063.1:p.Asn526Lys
NM_001351135.1:c.1575T>A	NP_001338064.1:p.Asn525Lys
NM_001351136.1:c.1569T>A	NP_001338065.1:p.Asn523Lys
NM_001351137.1:c.1530T>A	NP_001338066.1:p.Asn510Lys
NM_001351138.1:c.1512T>A	NP_001338067.1:p.Asn504Lys
NM_001351139.1:c.1443T>A	NP_001338068.1:p.Asn481Lys
NM_001351140.1:c.1443T>A	NP_001338069.1:p.Asn481Lys
XM_011520793.2:c.1686T>A	XP_011519095.1:p.Asn562Lys
XM_011520802.2:c.1329T>A	XP_011519104.1:p.Asn443Lys
XM_017019744.1:c.2022T>A	XP_016875233.1:p.Asn674Lys
XM_017019745.1:c.2022T>A	XP_016875234.1:p.Asn674Lys
XM_017019746.1:c.1911T>A	XP_016875235.1:p.Asn637Lys
XM_017019747.1:c.1887T>A	XP_016875236.1:p.Asn629Lys
XM_017019748.1:c.1623T>A	XP_016875237.1:p.Asn541Lys
XM_017019749.1:c.1578T>A	XP_016875238.1:p.Asn526Lys
XM_017019750.1:c.1554T>A	XP_016875239.1:p.Asn518Lys
XR_001748833.1:n.2064T>A
NM_000319.5:c.1554T>A	NP_000310.2:p.Asn518Lys
NM_001131023.2:c.1623T>A	NP_001124495.1:p.Asn541Lys
NM_001131024.2:c.1467T>A	NP_001124496.1:p.Asn489Lys
NM_001131025.2:c.1578T>A	NP_001124497.1:p.Asn526Lys
NM_001131026.2:c.1578T>A	NP_001124498.1:p.Asn526Lys
NM_001300789.3:c.1578T>A	NP_001287718.2:p.Asn526Lys
NM_001351124.3:c.1467T>A	NP_001338053.1:p.Asn489Lys
NM_001351126.2:c.1467T>A	NP_001338055.1:p.Asn489Lys
NM_001351127.2:c.1467T>A	NP_001338056.1:p.Asn489Lys
NM_001351128.2:c.1467T>A	NP_001338057.1:p.Asn489Lys
NM_001351130.3:c.1467T>A	NP_001338059.1:p.Asn489Lys
NM_001351131.2:c.1578T>A	NP_001338060.1:p.Asn526Lys
NM_001351132.2:c.1578T>A MANE Select	NP_001338061.1:p.Asn526Lys
NM_001351133.2:c.1578T>A	NP_001338062.1:p.Asn526Lys
NM_001351134.2:c.1578T>A	NP_001338063.1:p.Asn526Lys
NM_001351135.3:c.1512T>A	NP_001338064.2:p.Asn504Lys
NM_001351136.2:c.1569T>A	NP_001338065.1:p.Asn523Lys
NM_001351137.3:c.1467T>A	NP_001338066.2:p.Asn489Lys
NM_001351138.2:c.1512T>A	NP_001338067.1:p.Asn504Lys
NM_001351139.2:c.1443T>A	NP_001338068.1:p.Asn481Lys
NM_001351140.2:c.1443T>A	NP_001338069.1:p.Asn481Lys
NM_001374645.1:c.1467T>A	NP_001361574.1:p.Asn489Lys
NM_001374646.1:c.1467T>A	NP_001361575.1:p.Asn489Lys
NM_001374647.2:c.1578T>A	NP_001361576.1:p.Asn526Lys
NM_001374648.2:c.1467T>A	NP_001361577.1:p.Asn489Lys
NM_001374649.2:c.1443T>A	NP_001361578.1:p.Asn481Lys