Canonical Allele Identifier: CA538240

Gene: PEX10

Linked Data

• dbSNP Id: rs750860014
• ExAC: 1:2340249 G / A
• MyVariant Identifiers: chr1:g.2340249G>A (hg19) ; chr1:g.2408810G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408810G>A , CM000663.2:g.2408810G>A	GRCh38
NC_000001.10:g.2340249G>A , CM000663.1:g.2340249G>A	GRCh37
NC_000001.9:g.2330109G>A	NCBI36
NG_008342.1:g.8762C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.242C>T	ENSP00000288774.3:p.Pro81Leu
ENST00000447513.7:c.242C>T MANE Select	ENSP00000407922.2:p.Pro81Leu
ENST00000650293.1:c.196C>T
ENST00000288774.7:c.242C>T	ENSP00000288774.3:p.Pro81Leu
ENST00000447513.6:c.242C>T	ENSP00000407922.2:p.Pro81Leu
ENST00000502666.1:c.447C>T	ENSP00000461951.1:n.447C>T
ENST00000507596.5:c.242C>T	ENSP00000424291.1:p.Pro81Leu
ENST00000508384.5:c.-191C>T	ENSP00000464289.1:n.-191C>T
ENST00000510434.1:c.242C>T	ENSP00000423051.1:p.Pro81Leu
ENST00000514502.1:c.*259C>T	ENSP00000425924.1:n.*259C>T
ENST00000515760.1:n.376C>T
NM_002617.3:c.242C>T	NP_002608.1:p.Pro81Leu
NM_153818.1:c.242C>T	NP_722540.1:p.Pro81Leu
XM_011541573.1:c.242C>T	XP_011539875.1:p.Pro81Leu
XM_011541574.1:c.-191C>T	XP_011539876.1:n.-191C>T
XM_011541575.1:c.-191C>T	XP_011539877.1:n.-191C>T
XM_011541576.1:c.242C>T	XP_011539878.1:p.Pro81Leu
XR_946666.1:n.362C>T
XM_011541576.2:c.242C>T	XP_011539878.1:p.Pro81Leu
XR_946666.2:n.311C>T
NM_001374425.1:c.242C>T	NP_001361354.1:p.Pro81Leu
NM_001374426.1:c.-191C>T	NP_001361355.1:n.-191C>T
NM_001374427.1:c.-191C>T	NP_001361356.1:n.-191C>T
NM_002617.4:c.242C>T MANE Select	NP_002608.1:p.Pro81Leu
NM_153818.2:c.242C>T	NP_722540.1:p.Pro81Leu
NR_164636.1:n.361C>T