Canonical Allele Identifier: CA379803388

Gene: USH1C

Linked Data

• MyVariant Identifiers: chr11:g.17523043G>C (hg19) ; chr11:g.17501496G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.17501496G>C , CM000673.2:g.17501496G>C	GRCh38
NC_000011.9:g.17523043G>C , CM000673.1:g.17523043G>C	GRCh37
NC_000011.8:g.17479619G>C	NCBI36
NG_011883.1:g.47921C>G
NG_011883.2:g.47921C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2266C>G MANE Select	ENSP00000005226.7:p.Leu756Val
ENST00000318024.9:c.1366C>G MANE Plus Clinical	ENSP00000317018.4:p.Leu456Val
ENST00000005226.11:c.2266C>G	ENSP00000005226.7:p.Leu756Val
ENST00000318024.8:c.1366C>G	ENSP00000317018.4:p.Leu456Val
ENST00000526313.5:c.*80C>G	ENSP00000432236.1:n.*80C>G
ENST00000527020.5:c.1309C>G	ENSP00000436934.1:p.Leu437Val
ENST00000527720.5:c.1273C>G	ENSP00000432944.1:p.Leu425Val
ENST00000529563.5:n.250C>G
ENST00000534556.1:n.151C>G
NM_001297764.1:c.1309C>G	NP_001284693.1:p.Leu437Val
NM_005709.3:c.1366C>G	NP_005700.2:p.Leu456Val
NM_153676.3:c.2266C>G	NP_710142.1:p.Leu756Val
NR_123738.1:n.1401C>G
XM_011519831.1:c.2290C>G	XP_011518133.1:p.Leu764Val
XM_011519832.1:c.1519C>G	XP_011518134.1:p.Leu507Val
XM_011519833.1:c.1416C>G	XP_011518135.1:p.Ser472=
XR_930841.1:n.1737C>G
XR_930842.1:n.1678C>G
XM_011519832.3:c.1519C>G	XP_011518134.1:p.Leu507Val
XM_017017075.1:c.2266C>G	XP_016872564.1:p.Leu756Val
XR_001747717.2:n.1525C>G
NM_153676.4:c.2266C>G MANE Select	NP_710142.1:p.Leu756Val
NM_001297764.2:c.1309C>G	NP_001284693.1:p.Leu437Val
NM_005709.4:c.1366C>G MANE Plus Clinical	NP_005700.2:p.Leu456Val
NR_123738.2:n.1401C>G