Canonical Allele Identifier: CA379803389

Gene: USH1C

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000005226.12:c.2266C>A MANE Select	ENSP00000005226.7:p.Leu756Ile
ENST00000318024.9:c.1366C>A MANE Plus Clinical	ENSP00000317018.4:p.Leu456Ile
ENST00000005226.11:c.2266C>A	ENSP00000005226.7:p.Leu756Ile
ENST00000318024.8:c.1366C>A	ENSP00000317018.4:p.Leu456Ile
ENST00000526313.5:c.*80C>A	ENSP00000432236.1:n.*80C>A
ENST00000527020.5:c.1309C>A	ENSP00000436934.1:p.Leu437Ile
ENST00000527720.5:c.1273C>A	ENSP00000432944.1:p.Leu425Ile
ENST00000529563.5:n.250C>A
ENST00000534556.1:n.151C>A
NM_001297764.1:c.1309C>A	NP_001284693.1:p.Leu437Ile
NM_005709.3:c.1366C>A	NP_005700.2:p.Leu456Ile
NM_153676.3:c.2266C>A	NP_710142.1:p.Leu756Ile
NR_123738.1:n.1401C>A
XM_011519831.1:c.2290C>A	XP_011518133.1:p.Leu764Ile
XM_011519832.1:c.1519C>A	XP_011518134.1:p.Leu507Ile
XM_011519833.1:c.1416C>A	XP_011518135.1:p.Ser472=
XR_930841.1:n.1737C>A
XR_930842.1:n.1678C>A
XM_011519832.3:c.1519C>A	XP_011518134.1:p.Leu507Ile
XM_017017075.1:c.2266C>A	XP_016872564.1:p.Leu756Ile
XR_001747717.2:n.1525C>A
NM_153676.4:c.2266C>A MANE Select	NP_710142.1:p.Leu756Ile
NM_001297764.2:c.1309C>A	NP_001284693.1:p.Leu437Ile
NM_005709.4:c.1366C>A MANE Plus Clinical	NP_005700.2:p.Leu456Ile
NR_123738.2:n.1401C>A