Canonical Allele Identifier: CA983687
Community Standard Title: NM_001377458.1(CLCC1):c.75C>A (p.Asp25Glu)
Gene: CLCC1 HGNC NCBI
AKNAD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.108950363G>T , CM000663.2:g.108950363G>T GRCh38
NC_000001.10:g.109492985G>T , CM000663.1:g.109492985G>T GRCh37
NC_000001.9:g.109294508G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_001377458.1:c.75C>A (CLCC1) MANE Select NP_001364387.1:p.Asp25Glu
ENST00000369969.7:c.75C>A (CLCC1) MANE Select ENSP00000358986.3:p.Asp25Glu
NM_001048210.2:c.75C>A (CLCC1) NP_001041675.1:p.Asp25Glu
NM_001048210.3:c.75C>A (CLCC1) NP_001041675.1:p.Asp25Glu
NM_001278202.1:c.75C>A (CLCC1) NP_001265131.1:p.Asp25Glu
NM_001278202.2:c.75C>A (CLCC1) NP_001265131.1:p.Asp25Glu
NM_001278203.1:c.75C>A (CLCC1) NP_001265132.1:p.Asp25Glu
NM_001377459.1:c.75C>A (CLCC1) NP_001364388.1:p.Asp25Glu
NM_001377460.1:c.75C>A (CLCC1) NP_001364389.1:p.Asp25Glu
NM_001377461.1:c.75C>A (CLCC1) NP_001364390.1:p.Asp25Glu
NM_001377462.1:c.75C>A (CLCC1) NP_001364391.1:p.Asp25Glu
NM_001377463.1:c.75C>A (CLCC1) NP_001364392.1:p.Asp25Glu
NM_001377464.1:c.75C>A (CLCC1) NP_001364393.1:p.Asp25Glu
NM_001377465.1:c.75C>A (CLCC1) NP_001364394.1:p.Asp25Glu
NM_001377466.1:c.75C>A (CLCC1) NP_001364395.1:p.Asp25Glu
NM_001377467.1:c.75C>A (CLCC1) NP_001364396.1:p.Asp25Glu
NM_001377468.1:c.75C>A (CLCC1) NP_001364397.1:p.Asp25Glu
NM_001377469.1:c.75C>A (CLCC1) NP_001364398.1:p.Asp25Glu
NM_001377470.1:c.-388C>A (CLCC1) NP_001364399.1:n.-388C>A
NM_015127.4:c.75C>A (CLCC1) NP_055942.1:p.Asp25Glu
NM_015127.5:c.75C>A (CLCC1) NP_055942.1:p.Asp25Glu
NR_165299.1:n.371C>A (CLCC1)
ENST00000302500.4:c.75C>A (CLCC1) ENSP00000306552.4:p.Asp25Glu
ENST00000302500.5:c.75C>A (CLCC1) ENSP00000306552.4:p.Asp25Glu
ENST00000348264.6:c.75C>A (CLCC1) ENSP00000337243.2:p.Asp25Glu
ENST00000356970.6:c.75C>A (CLCC1) ENSP00000349456.2:p.Asp25Glu
ENST00000357393.5:c.114+12998C>A ENSP00000349968.5:n.114+12998C>A
ENST00000357393.6:c.-1+12998C>A (AKNAD1) ENSP00000349968.6:n.-1+12998C>A
ENST00000369968.6:c.75C>A (CLCC1) ENSP00000358985.2:p.Asp25Glu
ENST00000369968.7:c.-2-8C>A (CLCC1) ENSP00000358985.3:n.-2-8C>A
ENST00000369969.6:c.75C>A (CLCC1) ENSP00000358986.2:p.Asp25Glu
ENST00000369970.7:c.75C>A (CLCC1) ENSP00000358987.3:p.Asp25Glu
ENST00000369970.8:c.75C>A (CLCC1) ENSP00000358987.3:p.Asp25Glu
ENST00000369976.5:c.75C>A (CLCC1) ENSP00000358993.1:p.Asp25Glu
ENST00000674527.1:c.75C>A (CLCC1) ENSP00000501970.1:p.Asp25Glu
ENST00000674561.1:c.75C>A (CLCC1) ENSP00000501591.1:p.Asp25Glu
ENST00000674561.2:c.75C>A (CLCC1) ENSP00000501591.1:p.Asp25Glu
ENST00000674849.1:c.75C>A (CLCC1) ENSP00000502251.1:p.Asp25Glu
ENST00000674992.1:c.75C>A (CLCC1) ENSP00000501696.1:p.Asp25Glu
ENST00000675001.1:c.75C>A (CLCC1) ENSP00000502551.1:p.Asp25Glu
ENST00000675018.1:c.-231-442C>A (CLCC1) ENSP00000501777.1:n.-231-442C>A
ENST00000675128.1:c.75C>A (CLCC1) ENSP00000501658.1:p.Asp25Glu
ENST00000675247.2:c.75C>A (CLCC1) ENSP00000502042.2:p.Asp25Glu
ENST00000675451.1:c.75C>A (CLCC1) ENSP00000502653.1:p.Asp25Glu
ENST00000675508.1:c.75C>A (CLCC1) ENSP00000502836.1:p.Asp25Glu
ENST00000675571.1:c.-231-442C>A (CLCC1) ENSP00000502527.1:n.-231-442C>A
ENST00000675584.1:c.-2-8C>A (CLCC1) ENSP00000502784.1:n.-2-8C>A
ENST00000675650.1:c.-2-8C>A (CLCC1) ENSP00000502080.1:n.-2-8C>A
ENST00000675654.1:c.75C>A (CLCC1) ENSP00000502648.1:p.Asp25Glu
ENST00000675790.1:c.-10C>A (CLCC1) ENSP00000502115.1:n.-10C>A
ENST00000675956.1:c.75C>A (CLCC1) ENSP00000502457.1:p.Asp25Glu
ENST00000676059.1:c.75C>A (CLCC1) ENSP00000501775.1:p.Asp25Glu
ENST00000676059.2:c.75C>A (CLCC1) ENSP00000501775.2:p.Asp25Glu
ENST00000676306.1:c.75C>A (CLCC1) ENSP00000502771.1:p.Asp25Glu
ENST00000676391.2:c.75C>A (CLCC1) ENSP00000502109.2:p.Asp25Glu
ENST00000676392.1:c.75C>A (CLCC1) ENSP00000501566.1:p.Asp25Glu
ENST00000676392.2:c.75C>A (CLCC1) ENSP00000501566.1:p.Asp25Glu
ENST00000676454.1:c.75C>A (CLCC1) ENSP00000502169.1:p.Asp25Glu
ENST00000685014.1:c.75C>A (CLCC1) ENSP00000510582.1:p.Asp25Glu
ENST00000685104.1:c.75C>A (CLCC1) ENSP00000508473.1:p.Asp25Glu
ENST00000685497.1:c.75C>A (CLCC1) ENSP00000509420.1:p.Asp25Glu
ENST00000685540.1:c.75C>A (CLCC1) ENSP00000510352.1:p.Asp25Glu
ENST00000685628.1:c.75C>A (CLCC1) ENSP00000509075.1:p.Asp25Glu
ENST00000685791.1:c.-10C>A (CLCC1) ENSP00000509029.1:n.-10C>A
ENST00000686078.1:c.75C>A (CLCC1) ENSP00000510291.1:p.Asp25Glu
ENST00000686434.1:c.75C>A (CLCC1) ENSP00000508570.1:p.Asp25Glu
ENST00000686576.1:c.75C>A (CLCC1) ENSP00000508853.1:p.Asp25Glu
ENST00000686776.1:c.75C>A (CLCC1) ENSP00000509013.1:p.Asp25Glu
ENST00000686817.1:c.-10C>A (CLCC1) ENSP00000510123.1:n.-10C>A
ENST00000686821.1:c.75C>A (CLCC1) ENSP00000508563.1:p.Asp25Glu
ENST00000687099.1:c.-10C>A (CLCC1) ENSP00000509546.1:n.-10C>A
ENST00000687134.1:c.-10C>A (CLCC1) ENSP00000510579.1:n.-10C>A
ENST00000687226.1:c.75C>A (CLCC1) ENSP00000509162.1:p.Asp25Glu
ENST00000687328.1:c.75C>A (CLCC1) ENSP00000508816.1:p.Asp25Glu
ENST00000687449.1:c.75C>A (CLCC1) ENSP00000508982.1:p.Asp25Glu
ENST00000687591.1:c.75C>A (CLCC1) ENSP00000509036.1:p.Asp25Glu
ENST00000687646.1:c.-10C>A (CLCC1) ENSP00000509187.1:n.-10C>A
ENST00000687734.1:c.75C>A (CLCC1) ENSP00000510543.1:p.Asp25Glu
ENST00000687865.1:c.75C>A (CLCC1) ENSP00000509218.1:p.Asp25Glu
ENST00000687998.1:n.210C>A (CLCC1)
ENST00000688070.1:c.75C>A (CLCC1) ENSP00000508766.1:p.Asp25Glu
ENST00000688168.1:c.75C>A (CLCC1) ENSP00000508471.1:p.Asp25Glu
ENST00000688285.1:c.75C>A (CLCC1) ENSP00000509990.1:p.Asp25Glu
ENST00000688610.1:c.75C>A (CLCC1) ENSP00000510524.1:p.Asp25Glu
ENST00000688778.1:c.75C>A (CLCC1) ENSP00000510715.1:p.Asp25Glu
ENST00000689103.1:c.-231-442C>A (CLCC1) ENSP00000510039.1:n.-231-442C>A
ENST00000689189.1:c.75C>A (CLCC1) ENSP00000510675.1:p.Asp25Glu
ENST00000689351.1:c.75C>A (CLCC1) ENSP00000508607.1:p.Asp25Glu
ENST00000689359.1:c.75C>A (CLCC1) ENSP00000508884.1:p.Asp25Glu
ENST00000689479.1:c.-10C>A (CLCC1) ENSP00000510122.1:n.-10C>A
ENST00000689991.1:c.75C>A (CLCC1) ENSP00000508952.1:p.Asp25Glu
ENST00000690509.1:c.75C>A (CLCC1) ENSP00000510142.1:p.Asp25Glu
ENST00000690756.1:c.75C>A (CLCC1) ENSP00000509544.1:p.Asp25Glu
ENST00000690781.1:c.75C>A (CLCC1) ENSP00000510137.1:p.Asp25Glu
ENST00000690874.1:c.75C>A (CLCC1) ENSP00000510602.1:p.Asp25Glu
ENST00000691342.1:c.-231-442C>A (CLCC1) ENSP00000509738.1:n.-231-442C>A
ENST00000691513.1:c.75C>A (CLCC1) ENSP00000509584.1:p.Asp25Glu
ENST00000691556.1:c.75C>A (CLCC1) ENSP00000509451.1:p.Asp25Glu
ENST00000691731.1:c.75C>A (CLCC1) ENSP00000509533.1:p.Asp25Glu
ENST00000691777.1:c.-10C>A (CLCC1) ENSP00000508556.1:n.-10C>A
ENST00000692342.1:c.-10C>A (CLCC1) ENSP00000509495.1:n.-10C>A
ENST00000692404.1:c.75C>A (CLCC1) ENSP00000510666.1:p.Asp25Glu
ENST00000692511.1:c.75C>A (CLCC1) ENSP00000510067.1:p.Asp25Glu
ENST00000692584.1:n.43-2645C>A (CLCC1)
ENST00000692732.1:c.75C>A (CLCC1) ENSP00000508916.1:p.Asp25Glu
ENST00000692775.1:c.75C>A (CLCC1) ENSP00000509201.1:p.Asp25Glu
ENST00000692795.1:c.75C>A (CLCC1) ENSP00000509960.1:p.Asp25Glu
ENST00000693089.1:c.75C>A (CLCC1) ENSP00000509330.1:p.Asp25Glu
ENST00000693336.1:c.75C>A (CLCC1) ENSP00000509936.1:p.Asp25Glu
ENST00000693673.1:c.75C>A (CLCC1) ENSP00000509782.1:p.Asp25Glu