Canonical Allele Identifier: CA338145299
Gene: CAMTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-7752488-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7752488A>G , CM000663.2:g.7752488A>G GRCh38
NC_000001.10:g.7812548A>G , CM000663.1:g.7812548A>G GRCh37
NC_000001.9:g.7735135A>G NCBI36
NG_053148.1:g.972165A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000710284.1:c.1667A>G ENSP00000518174.1:p.Gln556Arg
ENST00000710285.1:c.2006A>G ENSP00000518175.1:p.Gln669Arg
ENST00000476864.2:c.4574A>G ENSP00000452319.2:p.Gln1525Arg
ENST00000495233.6:c.2235A>G
ENST00000700414.1:c.*4446A>G ENSP00000514978.1:n.*4446A>G
ENST00000700415.1:c.4505A>G ENSP00000514979.1:p.Gln1502Arg
ENST00000700417.1:c.4502A>G ENSP00000514981.1:p.Gln1501Arg
ENST00000700419.1:c.2759A>G ENSP00000514983.1:p.Gln920Arg
ENST00000700420.1:c.1964A>G ENSP00000514994.1:p.Gln655Arg
ENST00000700421.1:c.1985A>G ENSP00000514995.1:p.Gln662Arg
ENST00000700422.1:n.1087A>G
ENST00000700423.1:c.1667A>G ENSP00000514996.1:p.Gln556Arg
ENST00000700424.1:c.1667A>G ENSP00000514997.1:p.Gln556Arg
ENST00000700425.1:c.1625A>G ENSP00000514998.1:p.Gln542Arg
ENST00000700445.1:c.2259A>G
ENST00000700446.1:n.3309A>G
ENST00000700447.1:n.2593A>G
ENST00000700448.1:c.597A>G
ENST00000700449.1:c.117A>G
ENST00000303635.12:c.4913A>G MANE Select ENSP00000306522.6:p.Gln1638Arg
ENST00000303635.11:c.4913A>G ENSP00000306522.6:p.Gln1638Arg
ENST00000476864.1:c.605A>G ENSP00000452319.1:p.Gln202Arg
ENST00000490905.5:c.610A>G
ENST00000495233.5:c.1804A>G
NM_015215.3:c.4913A>G NP_056030.1:p.Gln1638Arg
XM_011541083.1:c.4934A>G XP_011539385.1:p.Gln1645Arg
XM_011541084.1:c.4934A>G XP_011539386.1:p.Gln1645Arg
XM_011541085.1:c.4922A>G XP_011539387.1:p.Gln1641Arg
XM_011541086.1:c.4913A>G XP_011539388.1:p.Gln1638Arg
XM_011541087.1:c.4862A>G XP_011539389.1:p.Gln1621Arg
XM_011541088.1:c.4844A>G XP_011539390.1:p.Gln1615Arg
XM_011541089.1:c.4595A>G XP_011539391.1:p.Gln1532Arg
XM_011541090.1:c.4595A>G XP_011539392.1:p.Gln1532Arg
NM_001349608.1:c.4823A>G NP_001336537.1:p.Gln1608Arg
NM_001349609.1:c.4595A>G NP_001336538.1:p.Gln1532Arg
NM_001349610.1:c.4589A>G NP_001336539.1:p.Gln1530Arg
NM_001349612.1:c.4505A>G NP_001336541.1:p.Gln1502Arg
NM_001349613.1:c.2042A>G NP_001336542.1:p.Gln681Arg
NM_001349614.1:c.2006A>G NP_001336543.1:p.Gln669Arg
NM_001349615.1:c.2006A>G NP_001336544.1:p.Gln669Arg
NM_001349616.1:c.2006A>G NP_001336545.1:p.Gln669Arg
NM_001349617.1:c.1985A>G NP_001336546.1:p.Gln662Arg
NM_001349618.1:c.1985A>G NP_001336547.1:p.Gln662Arg
NM_001349619.1:c.1667A>G NP_001336548.1:p.Gln556Arg
NM_001349620.1:c.1667A>G NP_001336549.1:p.Gln556Arg
NM_001349621.1:c.1667A>G NP_001336550.1:p.Gln556Arg
NM_001349622.1:c.1667A>G NP_001336551.1:p.Gln556Arg
NM_001349623.1:c.1646A>G NP_001336552.1:p.Gln549Arg
NM_001349624.2:c.1646A>G NP_001336553.1:p.Gln549Arg
NM_001349625.1:c.1646A>G NP_001336554.1:p.Gln549Arg
NM_001349626.1:c.1646A>G NP_001336555.1:p.Gln549Arg
XM_011541083.2:c.4934A>G XP_011539385.1:p.Gln1645Arg
XM_011541084.2:c.4934A>G XP_011539386.1:p.Gln1645Arg
XM_011541086.3:c.4913A>G XP_011539388.1:p.Gln1638Arg
XM_011541087.2:c.4862A>G XP_011539389.1:p.Gln1621Arg
XM_011541088.2:c.4844A>G XP_011539390.1:p.Gln1615Arg
XM_011541090.3:c.4595A>G XP_011539392.1:p.Gln1532Arg
XM_017000774.2:c.4934A>G XP_016856263.1:p.Gln1645Arg
XM_017000777.1:c.4574A>G XP_016856266.1:p.Gln1525Arg
XM_017000778.1:c.4574A>G XP_016856267.1:p.Gln1525Arg
XM_024454329.1:c.2195A>G XP_024310097.1:p.Gln732Arg
XM_024454330.1:c.2174A>G XP_024310098.1:p.Gln725Arg
XM_024454331.1:c.2006A>G XP_024310099.1:p.Gln669Arg
XM_024454332.1:c.2006A>G XP_024310100.1:p.Gln669Arg
XM_024454333.1:c.2006A>G XP_024310101.1:p.Gln669Arg
XM_024454334.1:c.2006A>G XP_024310102.1:p.Gln669Arg
XM_024454335.1:c.2006A>G XP_024310103.1:p.Gln669Arg
XM_024454338.1:c.1667A>G XP_024310106.1:p.Gln556Arg
NM_015215.4:c.4913A>G MANE Select NP_056030.1:p.Gln1638Arg
NM_001349608.2:c.4823A>G NP_001336537.1:p.Gln1608Arg
NM_001349609.2:c.4595A>G NP_001336538.1:p.Gln1532Arg
NM_001349610.2:c.4589A>G NP_001336539.1:p.Gln1530Arg
NM_001349612.2:c.4505A>G NP_001336541.1:p.Gln1502Arg
NM_001349615.2:c.2006A>G NP_001336544.1:p.Gln669Arg
NM_001349616.2:c.2006A>G NP_001336545.1:p.Gln669Arg
NM_001349618.2:c.1985A>G NP_001336547.1:p.Gln662Arg
NM_001349619.2:c.1667A>G NP_001336548.1:p.Gln556Arg
NM_001349622.2:c.1667A>G NP_001336551.1:p.Gln556Arg
NM_001349624.3:c.1646A>G NP_001336553.1:p.Gln549Arg
NM_001349626.2:c.1646A>G NP_001336555.1:p.Gln549Arg
NM_001349625.2:c.1646A>G NP_001336554.1:p.Gln549Arg