Canonical Allele Identifier: CA10607440

Linked Data

ClinVar Variation Id: 291714
ClinVar RCV Id: RCV000299988
dbSNP Id: rs10607

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.108930395C>T , CM000663.2:g.108930395C>T GRCh38
NC_000001.10:g.109473017C>T , CM000663.1:g.109473017C>T GRCh37
NC_000001.9:g.109274540C>T NCBI36
NG_028108.1:g.58415C>T
NG_028108.2:g.60046C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369976.6:c.3462G>A (CLCC1)
ENST00000473062.2:c.107-191G>A (CLCC1)
ENST00000482889.2:c.528-191G>A (CLCC1)
ENST00000685014.1:c.*2152G>A (CLCC1) ENSP00000510582.1:n.*2152G>A
ENST00000685104.1:c.*2152G>A (CLCC1) ENSP00000508473.1:n.*2152G>A
ENST00000685497.1:c.*2152G>A (CLCC1) ENSP00000509420.1:n.*2152G>A
ENST00000685540.1:c.*2152G>A (CLCC1) ENSP00000510352.1:n.*2152G>A
ENST00000685791.1:c.*2157G>A (CLCC1) ENSP00000509029.1:n.*2157G>A
ENST00000686434.1:c.*2152G>A (CLCC1) ENSP00000508570.1:n.*2152G>A
ENST00000686576.1:c.*2946G>A (CLCC1) ENSP00000508853.1:n.*2946G>A
ENST00000686776.1:c.*2152G>A (CLCC1) ENSP00000509013.1:n.*2152G>A
ENST00000686817.1:c.*2157G>A (CLCC1) ENSP00000510123.1:n.*2157G>A
ENST00000686821.1:c.*2152G>A (CLCC1) ENSP00000508563.1:n.*2152G>A
ENST00000687099.1:c.*2157G>A (CLCC1) ENSP00000509546.1:n.*2157G>A
ENST00000687134.1:c.*2152G>A (CLCC1) ENSP00000510579.1:n.*2152G>A
ENST00000687226.1:c.*2152G>A (CLCC1) ENSP00000509162.1:n.*2152G>A
ENST00000687328.1:c.*2152G>A (CLCC1) ENSP00000508816.1:n.*2152G>A
ENST00000687449.1:c.*2157G>A (CLCC1) ENSP00000508982.1:n.*2157G>A
ENST00000687591.1:c.*2152G>A (CLCC1) ENSP00000509036.1:n.*2152G>A
ENST00000687646.1:c.*2152G>A (CLCC1) ENSP00000509187.1:n.*2152G>A
ENST00000687675.1:n.4201G>A (CLCC1)
ENST00000687734.1:c.*2152G>A (CLCC1) ENSP00000510543.1:n.*2152G>A
ENST00000687865.1:c.*2157G>A (CLCC1) ENSP00000509218.1:n.*2157G>A
ENST00000687998.1:n.5919G>A (CLCC1)
ENST00000688070.1:c.*3057G>A (CLCC1) ENSP00000508766.1:n.*3057G>A
ENST00000688285.1:c.*2157G>A (CLCC1) ENSP00000509990.1:n.*2157G>A
ENST00000688298.1:n.3693G>A (CLCC1)
ENST00000688778.1:c.*2152G>A (CLCC1) ENSP00000510715.1:n.*2152G>A
ENST00000689103.1:c.*2152G>A (CLCC1) ENSP00000510039.1:n.*2152G>A
ENST00000689189.1:c.*2157G>A (CLCC1) ENSP00000510675.1:n.*2157G>A
ENST00000689351.1:c.*2152G>A (CLCC1) ENSP00000508607.1:n.*2152G>A
ENST00000689479.1:c.*2152G>A (CLCC1) ENSP00000510122.1:n.*2152G>A
ENST00000689991.1:c.*2152G>A (CLCC1) ENSP00000508952.1:n.*2152G>A
ENST00000690509.1:c.*45+4230G>A (CLCC1) ENSP00000510142.1:n.*45+4230G>A
ENST00000690707.1:n.3663G>A (CLCC1)
ENST00000690756.1:c.*2152G>A (CLCC1) ENSP00000509544.1:n.*2152G>A
ENST00000690781.1:c.*2157G>A (CLCC1) ENSP00000510137.1:n.*2157G>A
ENST00000691342.1:c.*2152G>A (CLCC1) ENSP00000509738.1:n.*2152G>A
ENST00000691513.1:c.*2152G>A (CLCC1) ENSP00000509584.1:n.*2152G>A
ENST00000691556.1:c.*2157G>A (CLCC1) ENSP00000509451.1:n.*2157G>A
ENST00000691777.1:c.*2152G>A (CLCC1) ENSP00000508556.1:n.*2152G>A
ENST00000692184.1:c.317-191G>A (CLCC1)
ENST00000692342.1:c.*2152G>A (CLCC1) ENSP00000509495.1:n.*2152G>A
ENST00000692511.1:c.*2152G>A (CLCC1) ENSP00000510067.1:n.*2152G>A
ENST00000692584.1:n.3256G>A (CLCC1)
ENST00000692775.1:c.*3625G>A (CLCC1) ENSP00000509201.1:n.*3625G>A
ENST00000693336.1:c.*2152G>A (CLCC1) ENSP00000509936.1:n.*2152G>A
ENST00000264126.9:c.*455C>T (GPSM2) MANE Select ENSP00000264126.3:n.*455C>T
ENST00000357393.6:c.-1+32966G>A (AKNAD1) ENSP00000349968.6:n.-1+32966G>A
ENST00000369968.7:c.*2152G>A (CLCC1) ENSP00000358985.3:n.*2152G>A
ENST00000369969.7:c.*2152G>A (CLCC1) MANE Select ENSP00000358986.3:n.*2152G>A
ENST00000642355.1:c.*35+420C>T (GPSM2) ENSP00000496104.1:n.*35+420C>T
ENST00000674731.1:c.*1227C>T (GPSM2) ENSP00000502401.1:n.*1227C>T
ENST00000674992.1:c.*3625G>A (CLCC1) ENSP00000501696.1:n.*3625G>A
ENST00000675001.1:c.*3625G>A (CLCC1) ENSP00000502551.1:n.*3625G>A
ENST00000675018.1:c.*2152G>A (CLCC1) ENSP00000501777.1:n.*2152G>A
ENST00000675086.1:c.*455C>T (GPSM2) ENSP00000502476.1:n.*455C>T
ENST00000264126.7:c.*455C>T (GPSM2) ENSP00000264126.3:n.*455C>T
ENST00000356970.6:c.*2152G>A (CLCC1) ENSP00000349456.2:n.*2152G>A
ENST00000357393.5:c.114+32966G>A ENSP00000349968.5:n.114+32966G>A
ENST00000369968.6:c.*2152G>A (CLCC1) ENSP00000358985.2:n.*2152G>A
ENST00000369969.6:c.*2152G>A (CLCC1) ENSP00000358986.2:n.*2152G>A
ENST00000369976.5:c.*961G>A (CLCC1) ENSP00000358993.1:n.*961G>A
ENST00000406462.6:c.*455C>T (GPSM2) ENSP00000385510.1:n.*455C>T
ENST00000473062.1:n.54-191G>A (CLCC1)
ENST00000482889.1:n.528-191G>A (CLCC1)
NM_001048210.2:c.*2152G>A (CLCC1) NP_001041675.1:n.*2152G>A
NM_001278202.1:c.*2152G>A (CLCC1) NP_001265131.1:n.*2152G>A
NM_001278203.1:c.*2152G>A (CLCC1) NP_001265132.1:n.*2152G>A
NM_013296.4:c.*455C>T (GPSM2) NP_037428.3:n.*455C>T
NM_015127.4:c.*2152G>A (CLCC1) NP_055942.1:n.*2152G>A
XM_005270787.2:c.*455C>T (GPSM2) XP_005270844.1:n.*455C>T
XM_006710589.1:c.*455C>T (GPSM2) XP_006710652.1:n.*455C>T
XM_011541301.1:c.*455C>T (GPSM2) XP_011539603.1:n.*455C>T
XM_011541302.1:c.*455C>T (GPSM2) XP_011539604.1:n.*455C>T
NM_001321038.1:c.*455C>T (GPSM2) NP_001307967.1:n.*455C>T
NM_001321039.1:c.*35+420C>T (GPSM2) NP_001307968.1:n.*35+420C>T
XM_006710589.3:c.*455C>T (GPSM2) XP_006710652.1:n.*455C>T
XM_011541301.2:c.*455C>T (GPSM2) XP_011539603.1:n.*455C>T
XM_011541302.3:c.*455C>T (GPSM2) XP_011539604.1:n.*455C>T
XM_017001097.2:c.*455C>T (GPSM2) XP_016856586.1:n.*455C>T
XM_017001098.2:c.*455C>T (GPSM2) XP_016856587.1:n.*455C>T
NM_013296.5:c.*455C>T (GPSM2) MANE Select NP_037428.3:n.*455C>T
NM_001048210.3:c.*2152G>A (CLCC1) NP_001041675.1:n.*2152G>A
NM_001278202.2:c.*2152G>A (CLCC1) NP_001265131.1:n.*2152G>A
NM_001321038.2:c.*455C>T (GPSM2) NP_001307967.1:n.*455C>T
NM_001321039.2:c.*35+420C>T (GPSM2) NP_001307968.1:n.*35+420C>T
NM_001377458.1:c.*2152G>A (CLCC1) MANE Select NP_001364387.1:n.*2152G>A
NM_001377459.1:c.*2157G>A (CLCC1) NP_001364388.1:n.*2157G>A
NM_001377460.1:c.*2157G>A (CLCC1) NP_001364389.1:n.*2157G>A
NM_001377461.1:c.*2152G>A (CLCC1) NP_001364390.1:n.*2152G>A
NM_001377462.1:c.*2157G>A (CLCC1) NP_001364391.1:n.*2157G>A
NM_001377463.1:c.*2152G>A (CLCC1) NP_001364392.1:n.*2152G>A
NM_001377464.1:c.*2152G>A (CLCC1) NP_001364393.1:n.*2152G>A
NM_001377465.1:c.*2152G>A (CLCC1) NP_001364394.1:n.*2152G>A
NM_001377466.1:c.*2152G>A (CLCC1) NP_001364395.1:n.*2152G>A
NM_001377467.1:c.*2152G>A (CLCC1) NP_001364396.1:n.*2152G>A
NM_001377468.1:c.*2157G>A (CLCC1) NP_001364397.1:n.*2157G>A
NM_001377469.1:c.*2152G>A (CLCC1) NP_001364398.1:n.*2152G>A
NM_001377470.1:c.*2152G>A (CLCC1) NP_001364399.1:n.*2152G>A
NM_015127.5:c.*2152G>A (CLCC1) NP_055942.1:n.*2152G>A
NR_165299.1:n.4423G>A (CLCC1)
NM_001321039.3:c.*35+420C>T (GPSM2) NP_001307968.1:n.*35+420C>T