Canonical Allele Identifier: CA338145558
Gene: CAMTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7752525T>A , CM000663.2:g.7752525T>A GRCh38
NC_000001.10:g.7812585T>A , CM000663.1:g.7812585T>A GRCh37
NC_000001.9:g.7735172T>A NCBI36
NG_053148.1:g.972202T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000710284.1:c.1704T>A ENSP00000518174.1:p.Cys568Ter
ENST00000710285.1:c.2043T>A ENSP00000518175.1:p.Cys681Ter
ENST00000476864.2:c.4611T>A ENSP00000452319.2:p.Cys1537Ter
ENST00000495233.6:c.2272T>A
ENST00000700414.1:c.*4483T>A ENSP00000514978.1:n.*4483T>A
ENST00000700415.1:c.4542T>A ENSP00000514979.1:p.Cys1514Ter
ENST00000700417.1:c.4539T>A ENSP00000514981.1:p.Cys1513Ter
ENST00000700419.1:c.2796T>A ENSP00000514983.1:p.Cys932Ter
ENST00000700420.1:c.2001T>A ENSP00000514994.1:p.Cys667Ter
ENST00000700421.1:c.2022T>A ENSP00000514995.1:p.Cys674Ter
ENST00000700422.1:n.1124T>A
ENST00000700423.1:c.1704T>A ENSP00000514996.1:p.Cys568Ter
ENST00000700424.1:c.1704T>A ENSP00000514997.1:p.Cys568Ter
ENST00000700425.1:c.1662T>A ENSP00000514998.1:p.Cys554Ter
ENST00000700445.1:c.2296T>A
ENST00000700446.1:n.3346T>A
ENST00000700447.1:n.2630T>A
ENST00000700448.1:c.634T>A
ENST00000700449.1:c.154T>A
ENST00000303635.12:c.4950T>A MANE Select ENSP00000306522.6:p.Cys1650Ter
ENST00000303635.11:c.4950T>A ENSP00000306522.6:p.Cys1650Ter
ENST00000476864.1:c.642T>A ENSP00000452319.1:p.Cys214Ter
ENST00000490905.5:c.647T>A
ENST00000495233.5:c.1841T>A
NM_015215.3:c.4950T>A NP_056030.1:p.Cys1650Ter
XM_011541083.1:c.4971T>A XP_011539385.1:p.Cys1657Ter
XM_011541084.1:c.4971T>A XP_011539386.1:p.Cys1657Ter
XM_011541085.1:c.4959T>A XP_011539387.1:p.Cys1653Ter
XM_011541086.1:c.4950T>A XP_011539388.1:p.Cys1650Ter
XM_011541087.1:c.4899T>A XP_011539389.1:p.Cys1633Ter
XM_011541088.1:c.4881T>A XP_011539390.1:p.Cys1627Ter
XM_011541089.1:c.4632T>A XP_011539391.1:p.Cys1544Ter
XM_011541090.1:c.4632T>A XP_011539392.1:p.Cys1544Ter
NM_001349608.1:c.4860T>A NP_001336537.1:p.Cys1620Ter
NM_001349609.1:c.4632T>A NP_001336538.1:p.Cys1544Ter
NM_001349610.1:c.4626T>A NP_001336539.1:p.Cys1542Ter
NM_001349612.1:c.4542T>A NP_001336541.1:p.Cys1514Ter
NM_001349613.1:c.2079T>A NP_001336542.1:p.Cys693Ter
NM_001349614.1:c.2043T>A NP_001336543.1:p.Cys681Ter
NM_001349615.1:c.2043T>A NP_001336544.1:p.Cys681Ter
NM_001349616.1:c.2043T>A NP_001336545.1:p.Cys681Ter
NM_001349617.1:c.2022T>A NP_001336546.1:p.Cys674Ter
NM_001349618.1:c.2022T>A NP_001336547.1:p.Cys674Ter
NM_001349619.1:c.1704T>A NP_001336548.1:p.Cys568Ter
NM_001349620.1:c.1704T>A NP_001336549.1:p.Cys568Ter
NM_001349621.1:c.1704T>A NP_001336550.1:p.Cys568Ter
NM_001349622.1:c.1704T>A NP_001336551.1:p.Cys568Ter
NM_001349623.1:c.1683T>A NP_001336552.1:p.Cys561Ter
NM_001349624.2:c.1683T>A NP_001336553.1:p.Cys561Ter
NM_001349625.1:c.1683T>A NP_001336554.1:p.Cys561Ter
NM_001349626.1:c.1683T>A NP_001336555.1:p.Cys561Ter
XM_011541083.2:c.4971T>A XP_011539385.1:p.Cys1657Ter
XM_011541084.2:c.4971T>A XP_011539386.1:p.Cys1657Ter
XM_011541086.3:c.4950T>A XP_011539388.1:p.Cys1650Ter
XM_011541087.2:c.4899T>A XP_011539389.1:p.Cys1633Ter
XM_011541088.2:c.4881T>A XP_011539390.1:p.Cys1627Ter
XM_011541090.3:c.4632T>A XP_011539392.1:p.Cys1544Ter
XM_017000774.2:c.4971T>A XP_016856263.1:p.Cys1657Ter
XM_017000777.1:c.4611T>A XP_016856266.1:p.Cys1537Ter
XM_017000778.1:c.4611T>A XP_016856267.1:p.Cys1537Ter
XM_024454329.1:c.2232T>A XP_024310097.1:p.Cys744Ter
XM_024454330.1:c.2211T>A XP_024310098.1:p.Cys737Ter
XM_024454331.1:c.2043T>A XP_024310099.1:p.Cys681Ter
XM_024454332.1:c.2043T>A XP_024310100.1:p.Cys681Ter
XM_024454333.1:c.2043T>A XP_024310101.1:p.Cys681Ter
XM_024454334.1:c.2043T>A XP_024310102.1:p.Cys681Ter
XM_024454335.1:c.2043T>A XP_024310103.1:p.Cys681Ter
XM_024454338.1:c.1704T>A XP_024310106.1:p.Cys568Ter
NM_015215.4:c.4950T>A MANE Select NP_056030.1:p.Cys1650Ter
NM_001349608.2:c.4860T>A NP_001336537.1:p.Cys1620Ter
NM_001349609.2:c.4632T>A NP_001336538.1:p.Cys1544Ter
NM_001349610.2:c.4626T>A NP_001336539.1:p.Cys1542Ter
NM_001349612.2:c.4542T>A NP_001336541.1:p.Cys1514Ter
NM_001349615.2:c.2043T>A NP_001336544.1:p.Cys681Ter
NM_001349616.2:c.2043T>A NP_001336545.1:p.Cys681Ter
NM_001349618.2:c.2022T>A NP_001336547.1:p.Cys674Ter
NM_001349619.2:c.1704T>A NP_001336548.1:p.Cys568Ter
NM_001349622.2:c.1704T>A NP_001336551.1:p.Cys568Ter
NM_001349624.3:c.1683T>A NP_001336553.1:p.Cys561Ter
NM_001349626.2:c.1683T>A NP_001336555.1:p.Cys561Ter
NM_001349625.2:c.1683T>A NP_001336554.1:p.Cys561Ter