Canonical Allele Identifier: CA337984190

Gene: PEX10

Linked Data

• MyVariant Identifiers: chr1:g.2337954C>A (hg19) ; chr1:g.2406515C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406515C>A , CM000663.2:g.2406515C>A	GRCh38
NC_000001.10:g.2337954C>A , CM000663.1:g.2337954C>A	GRCh37
NC_000001.9:g.2327814C>A	NCBI36
NG_008342.1:g.11057G>T
NG_016128.1:g.19741C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.941G>T	ENSP00000288774.3:p.Trp314Leu
ENST00000447513.7:c.881G>T MANE Select	ENSP00000407922.2:p.Trp294Leu
ENST00000650293.1:c.835G>T
ENST00000288774.7:c.941G>T	ENSP00000288774.3:p.Trp314Leu
ENST00000447513.6:c.881G>T	ENSP00000407922.2:p.Trp294Leu
ENST00000507596.5:c.881G>T	ENSP00000424291.1:p.Trp294Leu
NM_002617.3:c.881G>T	NP_002608.1:p.Trp294Leu
NM_153818.1:c.941G>T	NP_722540.1:p.Trp314Leu
XM_011541573.1:c.938G>T	XP_011539875.1:p.Trp313Leu
XM_011541574.1:c.506G>T	XP_011539876.1:p.Trp169Leu
XM_011541575.1:c.506G>T	XP_011539877.1:p.Trp169Leu
XR_946666.1:n.997G>T
XR_946666.2:n.946G>T
NM_001374425.1:c.938G>T	NP_001361354.1:p.Trp313Leu
NM_001374426.1:c.506G>T	NP_001361355.1:p.Trp169Leu
NM_001374427.1:c.449G>T	NP_001361356.1:p.Trp150Leu
NM_002617.4:c.881G>T MANE Select	NP_002608.1:p.Trp294Leu
NM_153818.2:c.941G>T	NP_722540.1:p.Trp314Leu
NR_164636.1:n.996G>T