Canonical Allele Identifier: CA538128

Gene: PEX10

Linked Data

• ClinVar Variation Id: 1370083
• ClinVar RCV Id: RCV001876972
• dbSNP Id: rs373559391
• ExAC: 1:2339895 G / A
• gnomAD v2: 1-2339895-G-A
• gnomAD v3: 1-2408456-G-A
• gnomAD v4: 1-2408456-G-A
• MyVariant Identifiers: chr1:g.2339895G>A (hg19) ; chr1:g.2408456G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408456G>A , CM000663.2:g.2408456G>A	GRCh38
NC_000001.10:g.2339895G>A , CM000663.1:g.2339895G>A	GRCh37
NC_000001.9:g.2329755G>A	NCBI36
NG_008342.1:g.9116C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.596C>T	ENSP00000288774.3:p.Thr199Met
ENST00000447513.7:c.596C>T MANE Select	ENSP00000407922.2:p.Thr199Met
ENST00000650293.1:c.550C>T
ENST00000288774.7:c.596C>T	ENSP00000288774.3:p.Thr199Met
ENST00000447513.6:c.596C>T	ENSP00000407922.2:p.Thr199Met
ENST00000507596.5:c.596C>T	ENSP00000424291.1:p.Thr199Met
ENST00000510434.1:c.596C>T	ENSP00000423051.1:p.Thr199Ile
NM_002617.3:c.596C>T	NP_002608.1:p.Thr199Met
NM_153818.1:c.596C>T	NP_722540.1:p.Thr199Met
XM_011541573.1:c.596C>T	XP_011539875.1:p.Thr199Met
XM_011541574.1:c.164C>T	XP_011539876.1:p.Thr55Met
XM_011541575.1:c.164C>T	XP_011539877.1:p.Thr55Met
XM_011541576.1:c.596C>T	XP_011539878.1:p.Thr199Met
XR_946666.1:n.716C>T
XM_011541576.2:c.596C>T	XP_011539878.1:p.Thr199Met
XR_946666.2:n.665C>T
NM_001374425.1:c.596C>T	NP_001361354.1:p.Thr199Met
NM_001374426.1:c.164C>T	NP_001361355.1:p.Thr55Met
NM_001374427.1:c.164C>T	NP_001361356.1:p.Thr55Met
NM_002617.4:c.596C>T MANE Select	NP_002608.1:p.Thr199Met
NM_153818.2:c.596C>T	NP_722540.1:p.Thr199Met
NR_164636.1:n.715C>T