Canonical Allele Identifier: CA338145134
Gene: CAMTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7752469C>G , CM000663.2:g.7752469C>G GRCh38
NC_000001.10:g.7812529C>G , CM000663.1:g.7812529C>G GRCh37
NC_000001.9:g.7735116C>G NCBI36
NG_053148.1:g.972146C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000710284.1:c.1648C>G ENSP00000518174.1:p.Leu550Val
ENST00000710285.1:c.1987C>G ENSP00000518175.1:p.Leu663Val
ENST00000476864.2:c.4555C>G ENSP00000452319.2:p.Leu1519Val
ENST00000495233.6:c.2216C>G
ENST00000700414.1:c.*4427C>G ENSP00000514978.1:n.*4427C>G
ENST00000700415.1:c.4486C>G ENSP00000514979.1:p.Leu1496Val
ENST00000700417.1:c.4483C>G ENSP00000514981.1:p.Leu1495Val
ENST00000700419.1:c.2740C>G ENSP00000514983.1:p.Leu914Val
ENST00000700420.1:c.1945C>G ENSP00000514994.1:p.Leu649Val
ENST00000700421.1:c.1966C>G ENSP00000514995.1:p.Leu656Val
ENST00000700422.1:n.1068C>G
ENST00000700423.1:c.1648C>G ENSP00000514996.1:p.Leu550Val
ENST00000700424.1:c.1648C>G ENSP00000514997.1:p.Leu550Val
ENST00000700425.1:c.1606C>G ENSP00000514998.1:p.Leu536Val
ENST00000700445.1:c.2240C>G
ENST00000700446.1:n.3290C>G
ENST00000700447.1:n.2574C>G
ENST00000700448.1:c.578C>G
ENST00000700449.1:c.98C>G
ENST00000303635.12:c.4894C>G MANE Select ENSP00000306522.6:p.Leu1632Val
ENST00000303635.11:c.4894C>G ENSP00000306522.6:p.Leu1632Val
ENST00000476864.1:c.586C>G ENSP00000452319.1:p.Leu196Val
ENST00000490905.5:c.591C>G
ENST00000495233.5:c.1785C>G
NM_015215.3:c.4894C>G NP_056030.1:p.Leu1632Val
XM_011541083.1:c.4915C>G XP_011539385.1:p.Leu1639Val
XM_011541084.1:c.4915C>G XP_011539386.1:p.Leu1639Val
XM_011541085.1:c.4903C>G XP_011539387.1:p.Leu1635Val
XM_011541086.1:c.4894C>G XP_011539388.1:p.Leu1632Val
XM_011541087.1:c.4843C>G XP_011539389.1:p.Leu1615Val
XM_011541088.1:c.4825C>G XP_011539390.1:p.Leu1609Val
XM_011541089.1:c.4576C>G XP_011539391.1:p.Leu1526Val
XM_011541090.1:c.4576C>G XP_011539392.1:p.Leu1526Val
NM_001349608.1:c.4804C>G NP_001336537.1:p.Leu1602Val
NM_001349609.1:c.4576C>G NP_001336538.1:p.Leu1526Val
NM_001349610.1:c.4570C>G NP_001336539.1:p.Leu1524Val
NM_001349612.1:c.4486C>G NP_001336541.1:p.Leu1496Val
NM_001349613.1:c.2023C>G NP_001336542.1:p.Leu675Val
NM_001349614.1:c.1987C>G NP_001336543.1:p.Leu663Val
NM_001349615.1:c.1987C>G NP_001336544.1:p.Leu663Val
NM_001349616.1:c.1987C>G NP_001336545.1:p.Leu663Val
NM_001349617.1:c.1966C>G NP_001336546.1:p.Leu656Val
NM_001349618.1:c.1966C>G NP_001336547.1:p.Leu656Val
NM_001349619.1:c.1648C>G NP_001336548.1:p.Leu550Val
NM_001349620.1:c.1648C>G NP_001336549.1:p.Leu550Val
NM_001349621.1:c.1648C>G NP_001336550.1:p.Leu550Val
NM_001349622.1:c.1648C>G NP_001336551.1:p.Leu550Val
NM_001349623.1:c.1627C>G NP_001336552.1:p.Leu543Val
NM_001349624.2:c.1627C>G NP_001336553.1:p.Leu543Val
NM_001349625.1:c.1627C>G NP_001336554.1:p.Leu543Val
NM_001349626.1:c.1627C>G NP_001336555.1:p.Leu543Val
XM_011541083.2:c.4915C>G XP_011539385.1:p.Leu1639Val
XM_011541084.2:c.4915C>G XP_011539386.1:p.Leu1639Val
XM_011541086.3:c.4894C>G XP_011539388.1:p.Leu1632Val
XM_011541087.2:c.4843C>G XP_011539389.1:p.Leu1615Val
XM_011541088.2:c.4825C>G XP_011539390.1:p.Leu1609Val
XM_011541090.3:c.4576C>G XP_011539392.1:p.Leu1526Val
XM_017000774.2:c.4915C>G XP_016856263.1:p.Leu1639Val
XM_017000777.1:c.4555C>G XP_016856266.1:p.Leu1519Val
XM_017000778.1:c.4555C>G XP_016856267.1:p.Leu1519Val
XM_024454329.1:c.2176C>G XP_024310097.1:p.Leu726Val
XM_024454330.1:c.2155C>G XP_024310098.1:p.Leu719Val
XM_024454331.1:c.1987C>G XP_024310099.1:p.Leu663Val
XM_024454332.1:c.1987C>G XP_024310100.1:p.Leu663Val
XM_024454333.1:c.1987C>G XP_024310101.1:p.Leu663Val
XM_024454334.1:c.1987C>G XP_024310102.1:p.Leu663Val
XM_024454335.1:c.1987C>G XP_024310103.1:p.Leu663Val
XM_024454338.1:c.1648C>G XP_024310106.1:p.Leu550Val
NM_015215.4:c.4894C>G MANE Select NP_056030.1:p.Leu1632Val
NM_001349608.2:c.4804C>G NP_001336537.1:p.Leu1602Val
NM_001349609.2:c.4576C>G NP_001336538.1:p.Leu1526Val
NM_001349610.2:c.4570C>G NP_001336539.1:p.Leu1524Val
NM_001349612.2:c.4486C>G NP_001336541.1:p.Leu1496Val
NM_001349615.2:c.1987C>G NP_001336544.1:p.Leu663Val
NM_001349616.2:c.1987C>G NP_001336545.1:p.Leu663Val
NM_001349618.2:c.1966C>G NP_001336547.1:p.Leu656Val
NM_001349619.2:c.1648C>G NP_001336548.1:p.Leu550Val
NM_001349622.2:c.1648C>G NP_001336551.1:p.Leu550Val
NM_001349624.3:c.1627C>G NP_001336553.1:p.Leu543Val
NM_001349626.2:c.1627C>G NP_001336555.1:p.Leu543Val
NM_001349625.2:c.1627C>G NP_001336554.1:p.Leu543Val