Canonical Allele Identifier: CA16603760
Gene: CAMTA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 390487
ClinVar RCV Id: RCV000439913
dbSNP Id: rs1057523792

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7752496C>T , CM000663.2:g.7752496C>T GRCh38
NC_000001.10:g.7812556C>T , CM000663.1:g.7812556C>T GRCh37
NC_000001.9:g.7735143C>T NCBI36
NG_053148.1:g.972173C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000710284.1:c.1675C>T ENSP00000518174.1:p.Arg559Ter
ENST00000710285.1:c.2014C>T ENSP00000518175.1:p.Arg672Ter
ENST00000476864.2:c.4582C>T ENSP00000452319.2:p.Arg1528Ter
ENST00000495233.6:c.2243C>T
ENST00000700414.1:c.*4454C>T ENSP00000514978.1:n.*4454C>T
ENST00000700415.1:c.4513C>T ENSP00000514979.1:p.Arg1505Ter
ENST00000700417.1:c.4510C>T ENSP00000514981.1:p.Arg1504Ter
ENST00000700419.1:c.2767C>T ENSP00000514983.1:p.Arg923Ter
ENST00000700420.1:c.1972C>T ENSP00000514994.1:p.Arg658Ter
ENST00000700421.1:c.1993C>T ENSP00000514995.1:p.Arg665Ter
ENST00000700422.1:n.1095C>T
ENST00000700423.1:c.1675C>T ENSP00000514996.1:p.Arg559Ter
ENST00000700424.1:c.1675C>T ENSP00000514997.1:p.Arg559Ter
ENST00000700425.1:c.1633C>T ENSP00000514998.1:p.Arg545Ter
ENST00000700445.1:c.2267C>T
ENST00000700446.1:n.3317C>T
ENST00000700447.1:n.2601C>T
ENST00000700448.1:c.605C>T
ENST00000700449.1:c.125C>T
ENST00000303635.12:c.4921C>T MANE Select ENSP00000306522.6:p.Arg1641Ter
ENST00000303635.11:c.4921C>T ENSP00000306522.6:p.Arg1641Ter
ENST00000476864.1:c.613C>T ENSP00000452319.1:p.Arg205Ter
ENST00000490905.5:c.618C>T
ENST00000495233.5:c.1812C>T
NM_015215.3:c.4921C>T NP_056030.1:p.Arg1641Ter
XM_011541083.1:c.4942C>T XP_011539385.1:p.Arg1648Ter
XM_011541084.1:c.4942C>T XP_011539386.1:p.Arg1648Ter
XM_011541085.1:c.4930C>T XP_011539387.1:p.Arg1644Ter
XM_011541086.1:c.4921C>T XP_011539388.1:p.Arg1641Ter
XM_011541087.1:c.4870C>T XP_011539389.1:p.Arg1624Ter
XM_011541088.1:c.4852C>T XP_011539390.1:p.Arg1618Ter
XM_011541089.1:c.4603C>T XP_011539391.1:p.Arg1535Ter
XM_011541090.1:c.4603C>T XP_011539392.1:p.Arg1535Ter
NM_001349608.1:c.4831C>T NP_001336537.1:p.Arg1611Ter
NM_001349609.1:c.4603C>T NP_001336538.1:p.Arg1535Ter
NM_001349610.1:c.4597C>T NP_001336539.1:p.Arg1533Ter
NM_001349612.1:c.4513C>T NP_001336541.1:p.Arg1505Ter
NM_001349613.1:c.2050C>T NP_001336542.1:p.Arg684Ter
NM_001349614.1:c.2014C>T NP_001336543.1:p.Arg672Ter
NM_001349615.1:c.2014C>T NP_001336544.1:p.Arg672Ter
NM_001349616.1:c.2014C>T NP_001336545.1:p.Arg672Ter
NM_001349617.1:c.1993C>T NP_001336546.1:p.Arg665Ter
NM_001349618.1:c.1993C>T NP_001336547.1:p.Arg665Ter
NM_001349619.1:c.1675C>T NP_001336548.1:p.Arg559Ter
NM_001349620.1:c.1675C>T NP_001336549.1:p.Arg559Ter
NM_001349621.1:c.1675C>T NP_001336550.1:p.Arg559Ter
NM_001349622.1:c.1675C>T NP_001336551.1:p.Arg559Ter
NM_001349623.1:c.1654C>T NP_001336552.1:p.Arg552Ter
NM_001349624.2:c.1654C>T NP_001336553.1:p.Arg552Ter
NM_001349625.1:c.1654C>T NP_001336554.1:p.Arg552Ter
NM_001349626.1:c.1654C>T NP_001336555.1:p.Arg552Ter
XM_011541083.2:c.4942C>T XP_011539385.1:p.Arg1648Ter
XM_011541084.2:c.4942C>T XP_011539386.1:p.Arg1648Ter
XM_011541086.3:c.4921C>T XP_011539388.1:p.Arg1641Ter
XM_011541087.2:c.4870C>T XP_011539389.1:p.Arg1624Ter
XM_011541088.2:c.4852C>T XP_011539390.1:p.Arg1618Ter
XM_011541090.3:c.4603C>T XP_011539392.1:p.Arg1535Ter
XM_017000774.2:c.4942C>T XP_016856263.1:p.Arg1648Ter
XM_017000777.1:c.4582C>T XP_016856266.1:p.Arg1528Ter
XM_017000778.1:c.4582C>T XP_016856267.1:p.Arg1528Ter
XM_024454329.1:c.2203C>T XP_024310097.1:p.Arg735Ter
XM_024454330.1:c.2182C>T XP_024310098.1:p.Arg728Ter
XM_024454331.1:c.2014C>T XP_024310099.1:p.Arg672Ter
XM_024454332.1:c.2014C>T XP_024310100.1:p.Arg672Ter
XM_024454333.1:c.2014C>T XP_024310101.1:p.Arg672Ter
XM_024454334.1:c.2014C>T XP_024310102.1:p.Arg672Ter
XM_024454335.1:c.2014C>T XP_024310103.1:p.Arg672Ter
XM_024454338.1:c.1675C>T XP_024310106.1:p.Arg559Ter
NM_015215.4:c.4921C>T MANE Select NP_056030.1:p.Arg1641Ter
NM_001349608.2:c.4831C>T NP_001336537.1:p.Arg1611Ter
NM_001349609.2:c.4603C>T NP_001336538.1:p.Arg1535Ter
NM_001349610.2:c.4597C>T NP_001336539.1:p.Arg1533Ter
NM_001349612.2:c.4513C>T NP_001336541.1:p.Arg1505Ter
NM_001349615.2:c.2014C>T NP_001336544.1:p.Arg672Ter
NM_001349616.2:c.2014C>T NP_001336545.1:p.Arg672Ter
NM_001349618.2:c.1993C>T NP_001336547.1:p.Arg665Ter
NM_001349619.2:c.1675C>T NP_001336548.1:p.Arg559Ter
NM_001349622.2:c.1675C>T NP_001336551.1:p.Arg559Ter
NM_001349624.3:c.1654C>T NP_001336553.1:p.Arg552Ter
NM_001349626.2:c.1654C>T NP_001336555.1:p.Arg552Ter
NM_001349625.2:c.1654C>T NP_001336554.1:p.Arg552Ter