Canonical Allele Identifier: CA415775622

Gene: PEX10

Linked Data

• ClinVar Variation Id: 1157060
• ClinVar RCV Id: RCV001499949
• dbSNP Id: rs1248786760
• MyVariant Identifiers: chr1:g.2339939G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408500G>A , CM000663.2:g.2408500G>A	GRCh38
NC_000001.10:g.2339939G>A , CM000663.1:g.2339939G>A	GRCh37
NC_000001.9:g.2329799G>A	NCBI36
NG_008342.1:g.9072C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.552C>T	ENSP00000288774.3:p.Ile184=
ENST00000447513.7:c.552C>T MANE Select	ENSP00000407922.2:p.Ile184=
ENST00000650293.1:c.506C>T
ENST00000288774.7:c.552C>T	ENSP00000288774.3:p.Ile184=
ENST00000447513.6:c.552C>T	ENSP00000407922.2:p.Ile184=
ENST00000507596.5:c.552C>T	ENSP00000424291.1:p.Ile184=
ENST00000510434.1:c.552C>T	ENSP00000423051.1:p.Ile184=
NM_002617.3:c.552C>T	NP_002608.1:p.Ile184=
NM_153818.1:c.552C>T	NP_722540.1:p.Ile184=
XM_011541573.1:c.552C>T	XP_011539875.1:p.Ile184=
XM_011541574.1:c.120C>T	XP_011539876.1:p.Ile40=
XM_011541575.1:c.120C>T	XP_011539877.1:p.Ile40=
XM_011541576.1:c.552C>T	XP_011539878.1:p.Ile184=
XR_946666.1:n.672C>T
XM_011541576.2:c.552C>T	XP_011539878.1:p.Ile184=
XR_946666.2:n.621C>T
NM_001374425.1:c.552C>T	NP_001361354.1:p.Ile184=
NM_001374426.1:c.120C>T	NP_001361355.1:p.Ile40=
NM_001374427.1:c.120C>T	NP_001361356.1:p.Ile40=
NM_002617.4:c.552C>T MANE Select	NP_002608.1:p.Ile184=
NM_153818.2:c.552C>T	NP_722540.1:p.Ile184=
NR_164636.1:n.671C>T