Canonical Allele Identifier: CA415775383

Gene: PEX10

Linked Data

• MyVariant Identifiers: chr1:g.2337962C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2406523C>A , CM000663.2:g.2406523C>A	GRCh38
NC_000001.10:g.2337962C>A , CM000663.1:g.2337962C>A	GRCh37
NC_000001.9:g.2327822C>A	NCBI36
NG_008342.1:g.11049G>T
NG_016128.1:g.19749C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.933G>T	ENSP00000288774.3:p.Leu311=
ENST00000447513.7:c.873G>T MANE Select	ENSP00000407922.2:p.Leu291=
ENST00000650293.1:c.827G>T
ENST00000288774.7:c.933G>T	ENSP00000288774.3:p.Leu311=
ENST00000447513.6:c.873G>T	ENSP00000407922.2:p.Leu291=
ENST00000507596.5:c.873G>T	ENSP00000424291.1:p.Leu291=
ENST00000510434.1:c.*239G>T	ENSP00000423051.1:n.*239G>T
NM_002617.3:c.873G>T	NP_002608.1:p.Leu291=
NM_153818.1:c.933G>T	NP_722540.1:p.Leu311=
XM_011541573.1:c.930G>T	XP_011539875.1:p.Leu310=
XM_011541574.1:c.498G>T	XP_011539876.1:p.Leu166=
XM_011541575.1:c.498G>T	XP_011539877.1:p.Leu166=
XR_946666.1:n.989G>T
XR_946666.2:n.938G>T
NM_001374425.1:c.930G>T	NP_001361354.1:p.Leu310=
NM_001374426.1:c.498G>T	NP_001361355.1:p.Leu166=
NM_001374427.1:c.441G>T	NP_001361356.1:p.Leu147=
NM_002617.4:c.873G>T MANE Select	NP_002608.1:p.Leu291=
NM_153818.2:c.933G>T	NP_722540.1:p.Leu311=
NR_164636.1:n.988G>T