Canonical Allele Identifier: CA538222

Gene: PEX10

Linked Data

• dbSNP Id: rs751911581
• ExAC: 1:2340198 A / G
• gnomAD v2: 1-2340198-A-G
• gnomAD v4: 1-2408759-A-G
• MyVariant Identifiers: chr1:g.2340198A>G (hg19) ; chr1:g.2408759A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408759A>G , CM000663.2:g.2408759A>G	GRCh38
NC_000001.10:g.2340198A>G , CM000663.1:g.2340198A>G	GRCh37
NC_000001.9:g.2330058A>G	NCBI36
NG_008342.1:g.8813T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.293T>C	ENSP00000288774.3:p.Leu98Pro
ENST00000447513.7:c.293T>C MANE Select	ENSP00000407922.2:p.Leu98Pro
ENST00000650293.1:c.247T>C
ENST00000288774.7:c.293T>C	ENSP00000288774.3:p.Leu98Pro
ENST00000447513.6:c.293T>C	ENSP00000407922.2:p.Leu98Pro
ENST00000502666.1:c.498T>C	ENSP00000461951.1:n.498T>C
ENST00000507596.5:c.293T>C	ENSP00000424291.1:p.Leu98Pro
ENST00000508384.5:c.-140T>C	ENSP00000464289.1:n.-140T>C
ENST00000510434.1:c.293T>C	ENSP00000423051.1:p.Leu98Pro
ENST00000514502.1:c.*310T>C	ENSP00000425924.1:n.*310T>C
ENST00000515760.1:n.427T>C
NM_002617.3:c.293T>C	NP_002608.1:p.Leu98Pro
NM_153818.1:c.293T>C	NP_722540.1:p.Leu98Pro
XM_011541573.1:c.293T>C	XP_011539875.1:p.Leu98Pro
XM_011541574.1:c.-140T>C	XP_011539876.1:n.-140T>C
XM_011541575.1:c.-140T>C	XP_011539877.1:n.-140T>C
XM_011541576.1:c.293T>C	XP_011539878.1:p.Leu98Pro
XR_946666.1:n.413T>C
XM_011541576.2:c.293T>C	XP_011539878.1:p.Leu98Pro
XR_946666.2:n.362T>C
NM_001374425.1:c.293T>C	NP_001361354.1:p.Leu98Pro
NM_001374426.1:c.-140T>C	NP_001361355.1:n.-140T>C
NM_001374427.1:c.-140T>C	NP_001361356.1:n.-140T>C
NM_002617.4:c.293T>C MANE Select	NP_002608.1:p.Leu98Pro
NM_153818.2:c.293T>C	NP_722540.1:p.Leu98Pro
NR_164636.1:n.412T>C