Canonical Allele Identifier: CA337988844

Gene: PEX10

Linked Data

• ClinVar Variation Id: 1376704
• ClinVar RCV Id: RCV001886079
• dbSNP Id: rs747921371
• gnomAD v4: 1-2408781-G-T
• MyVariant Identifiers: chr1:g.2340220G>T (hg19) ; chr1:g.2408781G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408781G>T , CM000663.2:g.2408781G>T	GRCh38
NC_000001.10:g.2340220G>T , CM000663.1:g.2340220G>T	GRCh37
NC_000001.9:g.2330080G>T	NCBI36
NG_008342.1:g.8791C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000288774.8:c.271C>A	ENSP00000288774.3:p.Arg91Ser
ENST00000447513.7:c.271C>A MANE Select	ENSP00000407922.2:p.Arg91Ser
ENST00000650293.1:c.225C>A
ENST00000288774.7:c.271C>A	ENSP00000288774.3:p.Arg91Ser
ENST00000447513.6:c.271C>A	ENSP00000407922.2:p.Arg91Ser
ENST00000502666.1:c.476C>A	ENSP00000461951.1:n.476C>A
ENST00000507596.5:c.271C>A	ENSP00000424291.1:p.Arg91Ser
ENST00000508384.5:c.-162C>A	ENSP00000464289.1:n.-162C>A
ENST00000510434.1:c.271C>A	ENSP00000423051.1:p.Arg91Ser
ENST00000514502.1:c.*288C>A	ENSP00000425924.1:n.*288C>A
ENST00000515760.1:n.405C>A
NM_002617.3:c.271C>A	NP_002608.1:p.Arg91Ser
NM_153818.1:c.271C>A	NP_722540.1:p.Arg91Ser
XM_011541573.1:c.271C>A	XP_011539875.1:p.Arg91Ser
XM_011541574.1:c.-162C>A	XP_011539876.1:n.-162C>A
XM_011541575.1:c.-162C>A	XP_011539877.1:n.-162C>A
XM_011541576.1:c.271C>A	XP_011539878.1:p.Arg91Ser
XR_946666.1:n.391C>A
XM_011541576.2:c.271C>A	XP_011539878.1:p.Arg91Ser
XR_946666.2:n.340C>A
NM_001374425.1:c.271C>A	NP_001361354.1:p.Arg91Ser
NM_001374426.1:c.-162C>A	NP_001361355.1:n.-162C>A
NM_001374427.1:c.-162C>A	NP_001361356.1:n.-162C>A
NM_002617.4:c.271C>A MANE Select	NP_002608.1:p.Arg91Ser
NM_153818.2:c.271C>A	NP_722540.1:p.Arg91Ser
NR_164636.1:n.390C>A