Canonical Allele Identifier: CA379803181

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17522681A>C (hg19) ; chr11:g.17501134A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501134A>C , CM000673.2:g.17501134A>C	GRCh38
NC_000011.9:g.17522681A>C , CM000673.1:g.17522681A>C	GRCh37
NC_000011.8:g.17479257A>C	NCBI36
NG_011883.1:g.48283T>G
NG_011883.2:g.48283T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2297T>G MANE Select	ENSP00000005226.7:p.Leu766Arg
ENST00000318024.9:c.1397T>G MANE Plus Clinical	ENSP00000317018.4:p.Leu466Arg
ENST00000005226.11:c.2297T>G	ENSP00000005226.7:p.Leu766Arg
ENST00000318024.8:c.1397T>G	ENSP00000317018.4:p.Leu466Arg
ENST00000526313.5:c.*111T>G	ENSP00000432236.1:n.*111T>G
ENST00000527020.5:c.1340T>G	ENSP00000436934.1:p.Leu447Arg
ENST00000527720.5:c.1304T>G	ENSP00000432944.1:p.Leu435Arg
ENST00000529563.5:n.281T>G
ENST00000534556.1:n.182T>G
NM_001297764.1:c.1340T>G	NP_001284693.1:p.Leu447Arg
NM_005709.3:c.1397T>G	NP_005700.2:p.Leu466Arg
NM_153676.3:c.2297T>G	NP_710142.1:p.Leu766Arg
NR_123738.1:n.1432T>G
XM_011519831.1:c.2321T>G	XP_011518133.1:p.Leu774Arg
XM_011519832.1:c.1550T>G	XP_011518134.1:p.Leu517Arg
XM_011519833.1:c.*4T>G	XP_011518135.1:n.*4T>G
XR_930841.1:n.1768T>G
XR_930842.1:n.1709T>G
XM_011519832.3:c.1550T>G	XP_011518134.1:p.Leu517Arg
XM_017017075.1:c.2297T>G	XP_016872564.1:p.Leu766Arg
XR_001747717.2:n.1556T>G
NM_153676.4:c.2297T>G MANE Select	NP_710142.1:p.Leu766Arg
NM_001297764.2:c.1340T>G	NP_001284693.1:p.Leu447Arg
NM_005709.4:c.1397T>G MANE Plus Clinical	NP_005700.2:p.Leu466Arg
NR_123738.2:n.1432T>G