Canonical Allele Identifier: CA337986977

Gene: PEX10

Linked Data

• gnomAD v4: 1-2408481-G-T
• MyVariant Identifiers: chr1:g.2339920G>T (hg19) ; chr1:g.2408481G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408481G>T , CM000663.2:g.2408481G>T	GRCh38
NC_000001.10:g.2339920G>T , CM000663.1:g.2339920G>T	GRCh37
NC_000001.9:g.2329780G>T	NCBI36
NG_008342.1:g.9091C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.571C>A	ENSP00000288774.3:p.Leu191Met
ENST00000447513.7:c.571C>A MANE Select	ENSP00000407922.2:p.Leu191Met
ENST00000650293.1:c.525C>A
ENST00000288774.7:c.571C>A	ENSP00000288774.3:p.Leu191Met
ENST00000447513.6:c.571C>A	ENSP00000407922.2:p.Leu191Met
ENST00000507596.5:c.571C>A	ENSP00000424291.1:p.Leu191Met
ENST00000510434.1:c.571C>A	ENSP00000423051.1:p.Leu191Met
NM_002617.3:c.571C>A	NP_002608.1:p.Leu191Met
NM_153818.1:c.571C>A	NP_722540.1:p.Leu191Met
XM_011541573.1:c.571C>A	XP_011539875.1:p.Leu191Met
XM_011541574.1:c.139C>A	XP_011539876.1:p.Leu47Met
XM_011541575.1:c.139C>A	XP_011539877.1:p.Leu47Met
XM_011541576.1:c.571C>A	XP_011539878.1:p.Leu191Met
XR_946666.1:n.691C>A
XM_011541576.2:c.571C>A	XP_011539878.1:p.Leu191Met
XR_946666.2:n.640C>A
NM_001374425.1:c.571C>A	NP_001361354.1:p.Leu191Met
NM_001374426.1:c.139C>A	NP_001361355.1:p.Leu47Met
NM_001374427.1:c.139C>A	NP_001361356.1:p.Leu47Met
NM_002617.4:c.571C>A MANE Select	NP_002608.1:p.Leu191Met
NM_153818.2:c.571C>A	NP_722540.1:p.Leu191Met
NR_164636.1:n.690C>A