Canonical Allele Identifier: CA411500332

Gene: SOX10 POLR2F

Linked Data

• ClinVar Variation Id: 547779
• ClinVar RCV Id: RCV000660279
• dbSNP Id: rs1555939426
• MyVariant Identifiers: chr22:g.38379428G>C (hg19) ; chr22:g.37983421G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.37983421G>C , CM000684.2:g.37983421G>C	GRCh38
NC_000022.10:g.38379428G>C , CM000684.1:g.38379428G>C	GRCh37
NC_000022.9:g.36709374G>C	NCBI36
NG_007948.1:g.6112C>G , LRG_271:g.6112C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000698177.1:c.580C>G (SOX10)	ENSP00000513596.1:p.Leu194Val
ENST00000690831.1:c.364C>G (SOX10)	ENSP00000510381.1:p.Leu122Val
ENST00000396884.8:c.364C>G (SOX10) MANE Select	ENSP00000380093.2:p.Leu122Val
ENST00000652356.1:n.653C>G (SOX10)
ENST00000360880.6:c.364C>G (SOX10)	ENSP00000354130.2:p.Leu122Val
ENST00000396884.6:c.364C>G (SOX10)	ENSP00000380093.2:p.Leu122Val
ENST00000405557.5:c.293+16251G>C (POLR2F)	ENSP00000384112.1:n.293+16251G>C
ENST00000407936.5:c.294-2733G>C (POLR2F)	ENSP00000385725.1:n.294-2733G>C
ENST00000427770.1:c.364C>G (SOX10)	ENSP00000414853.1:p.Leu122Val
ENST00000443002.5:c.*39-1631G>C (POLR2F)	ENSP00000406826.1:n.*39-1631G>C
ENST00000470555.1:n.70+918C>G (SOX10)
NM_001301130.1:c.294-2733G>C (POLR2F)	NP_001288059.1:n.294-2733G>C
NM_001301131.1:c.293+16251G>C (POLR2F)	NP_001288060.1:n.293+16251G>C
NM_006941.3:c.364C>G , LRG_271t1:c.364C>G (SOX10)	NP_008872.1:p.Leu122Val
XR_938243.1:n.158+11111G>C
NM_001363825.1:c.*38+11111G>C (POLR2F)	NP_001350754.1:n.*38+11111G>C
NM_001301130.2:c.294-2733G>C (POLR2F)	NP_001288059.1:n.294-2733G>C
NM_001301131.2:c.293+16251G>C (POLR2F)	NP_001288060.1:n.293+16251G>C
NM_006941.4:c.364C>G (SOX10) MANE Select	NP_008872.1:p.Leu122Val