Canonical Allele Identifier: CA175037

Gene: PEX10

Linked Data

• ClinVar Variation Id: 162432
• ClinVar RCV Id: RCV000149810 ; RCV000675117 ; RCV001206752 ; RCV003474799 ; RCV003133148
• dbSNP Id: rs724160000
• gnomAD v4: 1-2406566-A-G
• MyVariant Identifiers: chr1:g.2338005A>G (hg19) ; chr1:g.2406566A>G (hg38)
• PubMed: PMID:19127411

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406566A>G , CM000663.2:g.2406566A>G	GRCh38
NC_000001.10:g.2338005A>G , CM000663.1:g.2338005A>G	GRCh37
NC_000001.9:g.2327865A>G	NCBI36
NG_008342.1:g.11006T>C
NG_016128.1:g.19792A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.890T>C	ENSP00000288774.3:p.Leu297Pro
ENST00000447513.7:c.830T>C MANE Select	ENSP00000407922.2:p.Leu277Pro
ENST00000650293.1:c.784T>C
ENST00000288774.7:c.890T>C	ENSP00000288774.3:p.Leu297Pro
ENST00000447513.6:c.830T>C	ENSP00000407922.2:p.Leu277Pro
ENST00000507596.5:c.830T>C	ENSP00000424291.1:p.Leu277Pro
ENST00000510434.1:c.*196T>C	ENSP00000423051.1:n.*196T>C
NM_002617.3:c.830T>C	NP_002608.1:p.Leu277Pro
NM_153818.1:c.890T>C	NP_722540.1:p.Leu297Pro
XM_011541573.1:c.887T>C	XP_011539875.1:p.Leu296Pro
XM_011541574.1:c.455T>C	XP_011539876.1:p.Leu152Pro
XM_011541575.1:c.455T>C	XP_011539877.1:p.Leu152Pro
XR_946666.1:n.946T>C
XR_946666.2:n.895T>C
NM_001374425.1:c.887T>C	NP_001361354.1:p.Leu296Pro
NM_001374426.1:c.455T>C	NP_001361355.1:p.Leu152Pro
NM_001374427.1:c.398T>C	NP_001361356.1:p.Leu133Pro
NM_002617.4:c.830T>C MANE Select	NP_002608.1:p.Leu277Pro
NM_153818.2:c.890T>C	NP_722540.1:p.Leu297Pro
NR_164636.1:n.945T>C