Canonical Allele Identifier: CA3830616
Gene: CAPN11 HGNC NCBI
POLR1C HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.44172345C>T , CM000668.2:g.44172345C>T GRCh38
NC_000006.11:g.44140082C>T , CM000668.1:g.44140082C>T GRCh37
NC_000006.10:g.44248060C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000398776.2:c.453C>T (CAPN11) MANE Select ENSP00000381758.1:p.Cys151=
ENST00000398776.1:c.453C>T (CAPN11) ENSP00000381758.1:p.Cys151=
ENST00000532171.5:c.543C>T (CAPN11) ENSP00000432420.1:p.Cys181=
NM_007058.3:c.453C>T (CAPN11) NP_008989.2:p.Cys151=
XM_006714984.1:c.456C>T (CAPN11) XP_006715047.1:p.Cys152=
XM_006714985.1:c.456C>T (CAPN11) XP_006715048.1:p.Cys152=
XM_006714987.1:c.456C>T (CAPN11) XP_006715050.1:p.Cys152=
XM_011514274.1:c.468C>T (CAPN11) XP_011512576.1:p.Cys156=
XM_011514275.1:c.465C>T (CAPN11) XP_011512577.1:p.Cys155=
XR_926042.1:n.494C>T (CAPN11)
XR_926043.1:n.494C>T (CAPN11)
XR_926044.1:n.494C>T (CAPN11)
XR_001743134.1:n.494C>T (CAPN11)
XR_001743135.1:n.494C>T (CAPN11)
XR_001743136.1:n.494C>T (CAPN11)
NM_007058.4:c.453C>T (CAPN11) MANE Select NP_008989.2:p.Cys151=
NM_001318876.2:c.946-269545C>T (POLR1C) NP_001305805.1:n.946-269545C>T