Canonical Allele Identifier: CA337988643

Gene: PEX10

Linked Data

• ClinVar Variation Id: 1448192
• ClinVar RCV Id: RCV002012082
• dbSNP Id: rs1450880054
• gnomAD v2: 1-2340178-G-C
• gnomAD v4: 1-2408739-G-C
• MyVariant Identifiers: chr1:g.2340178G>C (hg19) ; chr1:g.2408739G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.2408739G>C , CM000663.2:g.2408739G>C	GRCh38
NC_000001.10:g.2340178G>C , CM000663.1:g.2340178G>C	GRCh37
NC_000001.9:g.2330038G>C	NCBI36
NG_008342.1:g.8833C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000288774.8:c.313C>G	ENSP00000288774.3:p.Leu105Val
ENST00000447513.7:c.313C>G MANE Select	ENSP00000407922.2:p.Leu105Val
ENST00000650293.1:c.267C>G
ENST00000288774.7:c.313C>G	ENSP00000288774.3:p.Leu105Val
ENST00000447513.6:c.313C>G	ENSP00000407922.2:p.Leu105Val
ENST00000502666.1:c.518C>G	ENSP00000461951.1:n.518C>G
ENST00000507596.5:c.313C>G	ENSP00000424291.1:p.Leu105Val
ENST00000508384.5:c.-120C>G	ENSP00000464289.1:n.-120C>G
ENST00000510434.1:c.313C>G	ENSP00000423051.1:p.Leu105Val
ENST00000515760.1:n.447C>G
NM_002617.3:c.313C>G	NP_002608.1:p.Leu105Val
NM_153818.1:c.313C>G	NP_722540.1:p.Leu105Val
XM_011541573.1:c.313C>G	XP_011539875.1:p.Leu105Val
XM_011541574.1:c.-120C>G	XP_011539876.1:n.-120C>G
XM_011541575.1:c.-120C>G	XP_011539877.1:n.-120C>G
XM_011541576.1:c.313C>G	XP_011539878.1:p.Leu105Val
XR_946666.1:n.433C>G
XM_011541576.2:c.313C>G	XP_011539878.1:p.Leu105Val
XR_946666.2:n.382C>G
NM_001374425.1:c.313C>G	NP_001361354.1:p.Leu105Val
NM_001374426.1:c.-120C>G	NP_001361355.1:n.-120C>G
NM_001374427.1:c.-120C>G	NP_001361356.1:n.-120C>G
NM_002617.4:c.313C>G MANE Select	NP_002608.1:p.Leu105Val
NM_153818.2:c.313C>G	NP_722540.1:p.Leu105Val
NR_164636.1:n.432C>G