Canonical Allele Identifier: CA415775747

Gene: PEX10

Linked Data

• MyVariant Identifiers: chr1:g.2340197C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408758C>T , CM000663.2:g.2408758C>T	GRCh38
NC_000001.10:g.2340197C>T , CM000663.1:g.2340197C>T	GRCh37
NC_000001.9:g.2330057C>T	NCBI36
NG_008342.1:g.8814G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.294G>A	ENSP00000288774.3:p.Leu98=
ENST00000447513.7:c.294G>A MANE Select	ENSP00000407922.2:p.Leu98=
ENST00000650293.1:c.248G>A
ENST00000288774.7:c.294G>A	ENSP00000288774.3:p.Leu98=
ENST00000447513.6:c.294G>A	ENSP00000407922.2:p.Leu98=
ENST00000502666.1:c.499G>A	ENSP00000461951.1:n.499G>A
ENST00000507596.5:c.294G>A	ENSP00000424291.1:p.Leu98=
ENST00000508384.5:c.-139G>A	ENSP00000464289.1:n.-139G>A
ENST00000510434.1:c.294G>A	ENSP00000423051.1:p.Leu98=
ENST00000514502.1:c.*311G>A	ENSP00000425924.1:n.*311G>A
ENST00000515760.1:n.428G>A
NM_002617.3:c.294G>A	NP_002608.1:p.Leu98=
NM_153818.1:c.294G>A	NP_722540.1:p.Leu98=
XM_011541573.1:c.294G>A	XP_011539875.1:p.Leu98=
XM_011541574.1:c.-139G>A	XP_011539876.1:n.-139G>A
XM_011541575.1:c.-139G>A	XP_011539877.1:n.-139G>A
XM_011541576.1:c.294G>A	XP_011539878.1:p.Leu98=
XR_946666.1:n.414G>A
XM_011541576.2:c.294G>A	XP_011539878.1:p.Leu98=
XR_946666.2:n.363G>A
NM_001374425.1:c.294G>A	NP_001361354.1:p.Leu98=
NM_001374426.1:c.-139G>A	NP_001361355.1:n.-139G>A
NM_001374427.1:c.-139G>A	NP_001361356.1:n.-139G>A
NM_002617.4:c.294G>A MANE Select	NP_002608.1:p.Leu98=
NM_153818.2:c.294G>A	NP_722540.1:p.Leu98=
NR_164636.1:n.413G>A