Canonical Allele Identifier: CA538209

Gene: PEX10

Linked Data

• ClinVar Variation Id: 559058
• ClinVar RCV Id: RCV000676045 ; RCV001080096 ; RCV001099331 ; RCV001272168
• dbSNP Id: rs35426403
• ExAC: 1:2340159 A / G
• gnomAD v2: 1-2340159-A-G
• gnomAD v3: 1-2408720-A-G
• gnomAD v4: 1-2408720-A-G
• MyVariant Identifiers: chr1:g.2340159A>G (hg19) ; chr1:g.2408720A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408720A>G , CM000663.2:g.2408720A>G	GRCh38
NC_000001.10:g.2340159A>G , CM000663.1:g.2340159A>G	GRCh37
NC_000001.9:g.2330019A>G	NCBI36
NG_008342.1:g.8852T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.332T>C	ENSP00000288774.3:p.Leu111Pro
ENST00000447513.7:c.332T>C MANE Select	ENSP00000407922.2:p.Leu111Pro
ENST00000650293.1:c.286T>C
ENST00000288774.7:c.332T>C	ENSP00000288774.3:p.Leu111Pro
ENST00000447513.6:c.332T>C	ENSP00000407922.2:p.Leu111Pro
ENST00000502666.1:c.537T>C	ENSP00000461951.1:n.537T>C
ENST00000507596.5:c.332T>C	ENSP00000424291.1:p.Leu111Pro
ENST00000508384.5:c.-101T>C	ENSP00000464289.1:n.-101T>C
ENST00000510434.1:c.332T>C	ENSP00000423051.1:p.Leu111Pro
ENST00000515760.1:n.466T>C
NM_002617.3:c.332T>C	NP_002608.1:p.Leu111Pro
NM_153818.1:c.332T>C	NP_722540.1:p.Leu111Pro
XM_011541573.1:c.332T>C	XP_011539875.1:p.Leu111Pro
XM_011541574.1:c.-101T>C	XP_011539876.1:n.-101T>C
XM_011541575.1:c.-101T>C	XP_011539877.1:n.-101T>C
XM_011541576.1:c.332T>C	XP_011539878.1:p.Leu111Pro
XR_946666.1:n.452T>C
XM_011541576.2:c.332T>C	XP_011539878.1:p.Leu111Pro
XR_946666.2:n.401T>C
NM_001374425.1:c.332T>C	NP_001361354.1:p.Leu111Pro
NM_001374426.1:c.-101T>C	NP_001361355.1:n.-101T>C
NM_001374427.1:c.-101T>C	NP_001361356.1:n.-101T>C
NM_002617.4:c.332T>C MANE Select	NP_002608.1:p.Leu111Pro
NM_153818.2:c.332T>C	NP_722540.1:p.Leu111Pro
NR_164636.1:n.451T>C