Canonical Allele Identifier: CA338145325
Gene: CAMTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7752493G>A , CM000663.2:g.7752493G>A GRCh38
NC_000001.10:g.7812553G>A , CM000663.1:g.7812553G>A GRCh37
NC_000001.9:g.7735140G>A NCBI36
NG_053148.1:g.972170G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000710284.1:c.1672G>A ENSP00000518174.1:p.Ala558Thr
ENST00000710285.1:c.2011G>A ENSP00000518175.1:p.Ala671Thr
ENST00000476864.2:c.4579G>A ENSP00000452319.2:p.Ala1527Thr
ENST00000495233.6:c.2240G>A
ENST00000700414.1:c.*4451G>A ENSP00000514978.1:n.*4451G>A
ENST00000700415.1:c.4510G>A ENSP00000514979.1:p.Ala1504Thr
ENST00000700417.1:c.4507G>A ENSP00000514981.1:p.Ala1503Thr
ENST00000700419.1:c.2764G>A ENSP00000514983.1:p.Ala922Thr
ENST00000700420.1:c.1969G>A ENSP00000514994.1:p.Ala657Thr
ENST00000700421.1:c.1990G>A ENSP00000514995.1:p.Ala664Thr
ENST00000700422.1:n.1092G>A
ENST00000700423.1:c.1672G>A ENSP00000514996.1:p.Ala558Thr
ENST00000700424.1:c.1672G>A ENSP00000514997.1:p.Ala558Thr
ENST00000700425.1:c.1630G>A ENSP00000514998.1:p.Ala544Thr
ENST00000700445.1:c.2264G>A
ENST00000700446.1:n.3314G>A
ENST00000700447.1:n.2598G>A
ENST00000700448.1:c.602G>A
ENST00000700449.1:c.122G>A
ENST00000303635.12:c.4918G>A MANE Select ENSP00000306522.6:p.Ala1640Thr
ENST00000303635.11:c.4918G>A ENSP00000306522.6:p.Ala1640Thr
ENST00000476864.1:c.610G>A ENSP00000452319.1:p.Ala204Thr
ENST00000490905.5:c.615G>A
ENST00000495233.5:c.1809G>A
NM_015215.3:c.4918G>A NP_056030.1:p.Ala1640Thr
XM_011541083.1:c.4939G>A XP_011539385.1:p.Ala1647Thr
XM_011541084.1:c.4939G>A XP_011539386.1:p.Ala1647Thr
XM_011541085.1:c.4927G>A XP_011539387.1:p.Ala1643Thr
XM_011541086.1:c.4918G>A XP_011539388.1:p.Ala1640Thr
XM_011541087.1:c.4867G>A XP_011539389.1:p.Ala1623Thr
XM_011541088.1:c.4849G>A XP_011539390.1:p.Ala1617Thr
XM_011541089.1:c.4600G>A XP_011539391.1:p.Ala1534Thr
XM_011541090.1:c.4600G>A XP_011539392.1:p.Ala1534Thr
NM_001349608.1:c.4828G>A NP_001336537.1:p.Ala1610Thr
NM_001349609.1:c.4600G>A NP_001336538.1:p.Ala1534Thr
NM_001349610.1:c.4594G>A NP_001336539.1:p.Ala1532Thr
NM_001349612.1:c.4510G>A NP_001336541.1:p.Ala1504Thr
NM_001349613.1:c.2047G>A NP_001336542.1:p.Ala683Thr
NM_001349614.1:c.2011G>A NP_001336543.1:p.Ala671Thr
NM_001349615.1:c.2011G>A NP_001336544.1:p.Ala671Thr
NM_001349616.1:c.2011G>A NP_001336545.1:p.Ala671Thr
NM_001349617.1:c.1990G>A NP_001336546.1:p.Ala664Thr
NM_001349618.1:c.1990G>A NP_001336547.1:p.Ala664Thr
NM_001349619.1:c.1672G>A NP_001336548.1:p.Ala558Thr
NM_001349620.1:c.1672G>A NP_001336549.1:p.Ala558Thr
NM_001349621.1:c.1672G>A NP_001336550.1:p.Ala558Thr
NM_001349622.1:c.1672G>A NP_001336551.1:p.Ala558Thr
NM_001349623.1:c.1651G>A NP_001336552.1:p.Ala551Thr
NM_001349624.2:c.1651G>A NP_001336553.1:p.Ala551Thr
NM_001349625.1:c.1651G>A NP_001336554.1:p.Ala551Thr
NM_001349626.1:c.1651G>A NP_001336555.1:p.Ala551Thr
XM_011541083.2:c.4939G>A XP_011539385.1:p.Ala1647Thr
XM_011541084.2:c.4939G>A XP_011539386.1:p.Ala1647Thr
XM_011541086.3:c.4918G>A XP_011539388.1:p.Ala1640Thr
XM_011541087.2:c.4867G>A XP_011539389.1:p.Ala1623Thr
XM_011541088.2:c.4849G>A XP_011539390.1:p.Ala1617Thr
XM_011541090.3:c.4600G>A XP_011539392.1:p.Ala1534Thr
XM_017000774.2:c.4939G>A XP_016856263.1:p.Ala1647Thr
XM_017000777.1:c.4579G>A XP_016856266.1:p.Ala1527Thr
XM_017000778.1:c.4579G>A XP_016856267.1:p.Ala1527Thr
XM_024454329.1:c.2200G>A XP_024310097.1:p.Ala734Thr
XM_024454330.1:c.2179G>A XP_024310098.1:p.Ala727Thr
XM_024454331.1:c.2011G>A XP_024310099.1:p.Ala671Thr
XM_024454332.1:c.2011G>A XP_024310100.1:p.Ala671Thr
XM_024454333.1:c.2011G>A XP_024310101.1:p.Ala671Thr
XM_024454334.1:c.2011G>A XP_024310102.1:p.Ala671Thr
XM_024454335.1:c.2011G>A XP_024310103.1:p.Ala671Thr
XM_024454338.1:c.1672G>A XP_024310106.1:p.Ala558Thr
NM_015215.4:c.4918G>A MANE Select NP_056030.1:p.Ala1640Thr
NM_001349608.2:c.4828G>A NP_001336537.1:p.Ala1610Thr
NM_001349609.2:c.4600G>A NP_001336538.1:p.Ala1534Thr
NM_001349610.2:c.4594G>A NP_001336539.1:p.Ala1532Thr
NM_001349612.2:c.4510G>A NP_001336541.1:p.Ala1504Thr
NM_001349615.2:c.2011G>A NP_001336544.1:p.Ala671Thr
NM_001349616.2:c.2011G>A NP_001336545.1:p.Ala671Thr
NM_001349618.2:c.1990G>A NP_001336547.1:p.Ala664Thr
NM_001349619.2:c.1672G>A NP_001336548.1:p.Ala558Thr
NM_001349622.2:c.1672G>A NP_001336551.1:p.Ala558Thr
NM_001349624.3:c.1651G>A NP_001336553.1:p.Ala551Thr
NM_001349626.2:c.1651G>A NP_001336555.1:p.Ala551Thr
NM_001349625.2:c.1651G>A NP_001336554.1:p.Ala551Thr