Canonical Allele Identifier: CA415776000

Gene: PEX10

Linked Data

• MyVariant Identifiers: chr1:g.2340248T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408809T>G , CM000663.2:g.2408809T>G	GRCh38
NC_000001.10:g.2340248T>G , CM000663.1:g.2340248T>G	GRCh37
NC_000001.9:g.2330108T>G	NCBI36
NG_008342.1:g.8763A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.243A>C	ENSP00000288774.3:p.Pro81=
ENST00000447513.7:c.243A>C MANE Select	ENSP00000407922.2:p.Pro81=
ENST00000650293.1:c.197A>C
ENST00000288774.7:c.243A>C	ENSP00000288774.3:p.Pro81=
ENST00000447513.6:c.243A>C	ENSP00000407922.2:p.Pro81=
ENST00000502666.1:c.448A>C	ENSP00000461951.1:n.448A>C
ENST00000507596.5:c.243A>C	ENSP00000424291.1:p.Pro81=
ENST00000508384.5:c.-190A>C	ENSP00000464289.1:n.-190A>C
ENST00000510434.1:c.243A>C	ENSP00000423051.1:p.Pro81=
ENST00000514502.1:c.*260A>C	ENSP00000425924.1:n.*260A>C
ENST00000515760.1:n.377A>C
NM_002617.3:c.243A>C	NP_002608.1:p.Pro81=
NM_153818.1:c.243A>C	NP_722540.1:p.Pro81=
XM_011541573.1:c.243A>C	XP_011539875.1:p.Pro81=
XM_011541574.1:c.-190A>C	XP_011539876.1:n.-190A>C
XM_011541575.1:c.-190A>C	XP_011539877.1:n.-190A>C
XM_011541576.1:c.243A>C	XP_011539878.1:p.Pro81=
XR_946666.1:n.363A>C
XM_011541576.2:c.243A>C	XP_011539878.1:p.Pro81=
XR_946666.2:n.312A>C
NM_001374425.1:c.243A>C	NP_001361354.1:p.Pro81=
NM_001374426.1:c.-190A>C	NP_001361355.1:n.-190A>C
NM_001374427.1:c.-190A>C	NP_001361356.1:n.-190A>C
NM_002617.4:c.243A>C MANE Select	NP_002608.1:p.Pro81=
NM_153818.2:c.243A>C	NP_722540.1:p.Pro81=
NR_164636.1:n.362A>C