Canonical Allele Identifier: CA538102

Gene: PEX10

Linked Data

• ClinVar Variation Id: 500033
• ClinVar RCV Id: RCV000596139 ; RCV001099326 ; RCV001086559 ; RCV001272164 ; RCV003935614
• dbSNP Id: rs144264865
• ExAC: 1:2338361 T / C
• gnomAD v2: 1-2338361-T-C
• gnomAD v3: 1-2406922-T-C
• gnomAD v4: 1-2406922-T-C
• MyVariant Identifiers: chr1:g.2338361T>C (hg19) ; chr1:g.2406922T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406922T>C , CM000663.2:g.2406922T>C	GRCh38
NC_000001.10:g.2338361T>C , CM000663.1:g.2338361T>C	GRCh37
NC_000001.9:g.2328221T>C	NCBI36
NG_008342.1:g.10650A>G
NG_016128.1:g.20148T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.634A>G	ENSP00000288774.3:p.Met212Val
ENST00000447513.7:c.601-27A>G MANE Select	ENSP00000407922.2:n.601-27A>G
ENST00000650293.1:c.555-27A>G
ENST00000288774.7:c.634A>G	ENSP00000288774.3:p.Met212Val
ENST00000447513.6:c.601-27A>G	ENSP00000407922.2:n.601-27A>G
ENST00000507596.5:c.601-27A>G	ENSP00000424291.1:n.601-27A>G
ENST00000510434.1:c.597-27A>G	ENSP00000423051.1:n.597-27A>G
NM_002617.3:c.601-27A>G	NP_002608.1:n.601-27A>G
NM_153818.1:c.634A>G	NP_722540.1:p.Met212Val
XM_011541573.1:c.631A>G	XP_011539875.1:p.Met211Val
XM_011541574.1:c.199A>G	XP_011539876.1:p.Met67Val
XM_011541575.1:c.199A>G	XP_011539877.1:p.Met67Val
XR_946666.1:n.717-27A>G
XR_946666.2:n.666-27A>G
NM_001374425.1:c.631A>G	NP_001361354.1:p.Met211Val
NM_001374426.1:c.199A>G	NP_001361355.1:p.Met67Val
NM_001374427.1:c.169-27A>G	NP_001361356.1:n.169-27A>G
NM_002617.4:c.601-27A>G MANE Select	NP_002608.1:n.601-27A>G
NM_153818.2:c.634A>G	NP_722540.1:p.Met212Val
NR_164636.1:n.716-27A>G