Canonical Allele Identifier: CA338145220
Gene: CAMTA1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7752480G>C , CM000663.2:g.7752480G>C GRCh38
NC_000001.10:g.7812540G>C , CM000663.1:g.7812540G>C GRCh37
NC_000001.9:g.7735127G>C NCBI36
NG_053148.1:g.972157G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000710284.1:c.1659G>C ENSP00000518174.1:p.Lys553Asn
ENST00000710285.1:c.1998G>C ENSP00000518175.1:p.Lys666Asn
ENST00000476864.2:c.4566G>C ENSP00000452319.2:p.Lys1522Asn
ENST00000495233.6:c.2227G>C
ENST00000700414.1:c.*4438G>C ENSP00000514978.1:n.*4438G>C
ENST00000700415.1:c.4497G>C ENSP00000514979.1:p.Lys1499Asn
ENST00000700417.1:c.4494G>C ENSP00000514981.1:p.Lys1498Asn
ENST00000700419.1:c.2751G>C ENSP00000514983.1:p.Lys917Asn
ENST00000700420.1:c.1956G>C ENSP00000514994.1:p.Lys652Asn
ENST00000700421.1:c.1977G>C ENSP00000514995.1:p.Lys659Asn
ENST00000700422.1:n.1079G>C
ENST00000700423.1:c.1659G>C ENSP00000514996.1:p.Lys553Asn
ENST00000700424.1:c.1659G>C ENSP00000514997.1:p.Lys553Asn
ENST00000700425.1:c.1617G>C ENSP00000514998.1:p.Lys539Asn
ENST00000700445.1:c.2251G>C
ENST00000700446.1:n.3301G>C
ENST00000700447.1:n.2585G>C
ENST00000700448.1:c.589G>C
ENST00000700449.1:c.109G>C
ENST00000303635.12:c.4905G>C MANE Select ENSP00000306522.6:p.Lys1635Asn
ENST00000303635.11:c.4905G>C ENSP00000306522.6:p.Lys1635Asn
ENST00000476864.1:c.597G>C ENSP00000452319.1:p.Lys199Asn
ENST00000490905.5:c.602G>C
ENST00000495233.5:c.1796G>C
NM_015215.3:c.4905G>C NP_056030.1:p.Lys1635Asn
XM_011541083.1:c.4926G>C XP_011539385.1:p.Lys1642Asn
XM_011541084.1:c.4926G>C XP_011539386.1:p.Lys1642Asn
XM_011541085.1:c.4914G>C XP_011539387.1:p.Lys1638Asn
XM_011541086.1:c.4905G>C XP_011539388.1:p.Lys1635Asn
XM_011541087.1:c.4854G>C XP_011539389.1:p.Lys1618Asn
XM_011541088.1:c.4836G>C XP_011539390.1:p.Lys1612Asn
XM_011541089.1:c.4587G>C XP_011539391.1:p.Lys1529Asn
XM_011541090.1:c.4587G>C XP_011539392.1:p.Lys1529Asn
NM_001349608.1:c.4815G>C NP_001336537.1:p.Lys1605Asn
NM_001349609.1:c.4587G>C NP_001336538.1:p.Lys1529Asn
NM_001349610.1:c.4581G>C NP_001336539.1:p.Lys1527Asn
NM_001349612.1:c.4497G>C NP_001336541.1:p.Lys1499Asn
NM_001349613.1:c.2034G>C NP_001336542.1:p.Lys678Asn
NM_001349614.1:c.1998G>C NP_001336543.1:p.Lys666Asn
NM_001349615.1:c.1998G>C NP_001336544.1:p.Lys666Asn
NM_001349616.1:c.1998G>C NP_001336545.1:p.Lys666Asn
NM_001349617.1:c.1977G>C NP_001336546.1:p.Lys659Asn
NM_001349618.1:c.1977G>C NP_001336547.1:p.Lys659Asn
NM_001349619.1:c.1659G>C NP_001336548.1:p.Lys553Asn
NM_001349620.1:c.1659G>C NP_001336549.1:p.Lys553Asn
NM_001349621.1:c.1659G>C NP_001336550.1:p.Lys553Asn
NM_001349622.1:c.1659G>C NP_001336551.1:p.Lys553Asn
NM_001349623.1:c.1638G>C NP_001336552.1:p.Lys546Asn
NM_001349624.2:c.1638G>C NP_001336553.1:p.Lys546Asn
NM_001349625.1:c.1638G>C NP_001336554.1:p.Lys546Asn
NM_001349626.1:c.1638G>C NP_001336555.1:p.Lys546Asn
XM_011541083.2:c.4926G>C XP_011539385.1:p.Lys1642Asn
XM_011541084.2:c.4926G>C XP_011539386.1:p.Lys1642Asn
XM_011541086.3:c.4905G>C XP_011539388.1:p.Lys1635Asn
XM_011541087.2:c.4854G>C XP_011539389.1:p.Lys1618Asn
XM_011541088.2:c.4836G>C XP_011539390.1:p.Lys1612Asn
XM_011541090.3:c.4587G>C XP_011539392.1:p.Lys1529Asn
XM_017000774.2:c.4926G>C XP_016856263.1:p.Lys1642Asn
XM_017000777.1:c.4566G>C XP_016856266.1:p.Lys1522Asn
XM_017000778.1:c.4566G>C XP_016856267.1:p.Lys1522Asn
XM_024454329.1:c.2187G>C XP_024310097.1:p.Lys729Asn
XM_024454330.1:c.2166G>C XP_024310098.1:p.Lys722Asn
XM_024454331.1:c.1998G>C XP_024310099.1:p.Lys666Asn
XM_024454332.1:c.1998G>C XP_024310100.1:p.Lys666Asn
XM_024454333.1:c.1998G>C XP_024310101.1:p.Lys666Asn
XM_024454334.1:c.1998G>C XP_024310102.1:p.Lys666Asn
XM_024454335.1:c.1998G>C XP_024310103.1:p.Lys666Asn
XM_024454338.1:c.1659G>C XP_024310106.1:p.Lys553Asn
NM_015215.4:c.4905G>C MANE Select NP_056030.1:p.Lys1635Asn
NM_001349608.2:c.4815G>C NP_001336537.1:p.Lys1605Asn
NM_001349609.2:c.4587G>C NP_001336538.1:p.Lys1529Asn
NM_001349610.2:c.4581G>C NP_001336539.1:p.Lys1527Asn
NM_001349612.2:c.4497G>C NP_001336541.1:p.Lys1499Asn
NM_001349615.2:c.1998G>C NP_001336544.1:p.Lys666Asn
NM_001349616.2:c.1998G>C NP_001336545.1:p.Lys666Asn
NM_001349618.2:c.1977G>C NP_001336547.1:p.Lys659Asn
NM_001349619.2:c.1659G>C NP_001336548.1:p.Lys553Asn
NM_001349622.2:c.1659G>C NP_001336551.1:p.Lys553Asn
NM_001349624.3:c.1638G>C NP_001336553.1:p.Lys546Asn
NM_001349626.2:c.1638G>C NP_001336555.1:p.Lys546Asn
NM_001349625.2:c.1638G>C NP_001336554.1:p.Lys546Asn