Canonical Allele Identifier: CA337988911

Gene: PEX10

Linked Data

• dbSNP Id: rs1157627982
• gnomAD v2: 1-2340231-G-A
• gnomAD v4: 1-2408792-G-A
• MyVariant Identifiers: chr1:g.2340231G>A (hg19) ; chr1:g.2408792G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408792G>A , CM000663.2:g.2408792G>A	GRCh38
NC_000001.10:g.2340231G>A , CM000663.1:g.2340231G>A	GRCh37
NC_000001.9:g.2330091G>A	NCBI36
NG_008342.1:g.8780C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.260C>T	ENSP00000288774.3:p.Pro87Leu
ENST00000447513.7:c.260C>T MANE Select	ENSP00000407922.2:p.Pro87Leu
ENST00000650293.1:c.214C>T
ENST00000288774.7:c.260C>T	ENSP00000288774.3:p.Pro87Leu
ENST00000447513.6:c.260C>T	ENSP00000407922.2:p.Pro87Leu
ENST00000502666.1:c.465C>T	ENSP00000461951.1:n.465C>T
ENST00000507596.5:c.260C>T	ENSP00000424291.1:p.Pro87Leu
ENST00000508384.5:c.-173C>T	ENSP00000464289.1:n.-173C>T
ENST00000510434.1:c.260C>T	ENSP00000423051.1:p.Pro87Leu
ENST00000514502.1:c.*277C>T	ENSP00000425924.1:n.*277C>T
ENST00000515760.1:n.394C>T
NM_002617.3:c.260C>T	NP_002608.1:p.Pro87Leu
NM_153818.1:c.260C>T	NP_722540.1:p.Pro87Leu
XM_011541573.1:c.260C>T	XP_011539875.1:p.Pro87Leu
XM_011541574.1:c.-173C>T	XP_011539876.1:n.-173C>T
XM_011541575.1:c.-173C>T	XP_011539877.1:n.-173C>T
XM_011541576.1:c.260C>T	XP_011539878.1:p.Pro87Leu
XR_946666.1:n.380C>T
XM_011541576.2:c.260C>T	XP_011539878.1:p.Pro87Leu
XR_946666.2:n.329C>T
NM_001374425.1:c.260C>T	NP_001361354.1:p.Pro87Leu
NM_001374426.1:c.-173C>T	NP_001361355.1:n.-173C>T
NM_001374427.1:c.-173C>T	NP_001361356.1:n.-173C>T
NM_002617.4:c.260C>T MANE Select	NP_002608.1:p.Pro87Leu
NM_153818.2:c.260C>T	NP_722540.1:p.Pro87Leu
NR_164636.1:n.379C>T