Canonical Allele Identifier: CA2643036066
Gene: CAMTA1 HGNC NCBI

Linked Data

gnomAD v4: 1-7752632-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7752632T>C , CM000663.2:g.7752632T>C GRCh38
NC_000001.10:g.7812692T>C , CM000663.1:g.7812692T>C GRCh37
NC_000001.9:g.7735279T>C NCBI36
NG_053148.1:g.972309T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000710284.1:c.1712+99T>C ENSP00000518174.1:n.1712+99T>C
ENST00000710285.1:c.2051+99T>C ENSP00000518175.1:n.2051+99T>C
ENST00000476864.2:c.4619+99T>C ENSP00000452319.2:n.4619+99T>C
ENST00000495233.6:c.2280+99T>C
ENST00000700414.1:c.*4491+99T>C ENSP00000514978.1:n.*4491+99T>C
ENST00000700415.1:c.4550+99T>C ENSP00000514979.1:n.4550+99T>C
ENST00000700417.1:c.4547+99T>C ENSP00000514981.1:n.4547+99T>C
ENST00000700419.1:c.2804+99T>C ENSP00000514983.1:n.2804+99T>C
ENST00000700420.1:c.2009+99T>C ENSP00000514994.1:n.2009+99T>C
ENST00000700421.1:c.2030+99T>C ENSP00000514995.1:n.2030+99T>C
ENST00000700422.1:n.1132+99T>C
ENST00000700423.1:c.1712+99T>C ENSP00000514996.1:n.1712+99T>C
ENST00000700424.1:c.1712+99T>C ENSP00000514997.1:n.1712+99T>C
ENST00000700425.1:c.1670+99T>C ENSP00000514998.1:n.1670+99T>C
ENST00000700445.1:c.2304+99T>C
ENST00000700446.1:n.3354+99T>C
ENST00000700447.1:n.2638+99T>C
ENST00000700448.1:c.642+99T>C
ENST00000700449.1:c.162+99T>C
ENST00000303635.12:c.4958+99T>C MANE Select ENSP00000306522.6:n.4958+99T>C
ENST00000303635.11:c.4958+99T>C ENSP00000306522.6:n.4958+99T>C
ENST00000476864.1:c.650+99T>C ENSP00000452319.1:n.650+99T>C
ENST00000490905.5:c.655+99T>C
ENST00000495233.5:c.1849+99T>C
NM_015215.3:c.4958+99T>C NP_056030.1:n.4958+99T>C
XM_011541083.1:c.4979+99T>C XP_011539385.1:n.4979+99T>C
XM_011541084.1:c.4979+99T>C XP_011539386.1:n.4979+99T>C
XM_011541085.1:c.4967+99T>C XP_011539387.1:n.4967+99T>C
XM_011541086.1:c.4958+99T>C XP_011539388.1:n.4958+99T>C
XM_011541087.1:c.4907+99T>C XP_011539389.1:n.4907+99T>C
XM_011541088.1:c.4889+99T>C XP_011539390.1:n.4889+99T>C
XM_011541089.1:c.4640+99T>C XP_011539391.1:n.4640+99T>C
XM_011541090.1:c.4640+99T>C XP_011539392.1:n.4640+99T>C
NM_001349608.1:c.4868+99T>C NP_001336537.1:n.4868+99T>C
NM_001349609.1:c.4640+99T>C NP_001336538.1:n.4640+99T>C
NM_001349610.1:c.4634+99T>C NP_001336539.1:n.4634+99T>C
NM_001349612.1:c.4550+99T>C NP_001336541.1:n.4550+99T>C
NM_001349613.1:c.2087+99T>C NP_001336542.1:n.2087+99T>C
NM_001349614.1:c.2051+99T>C NP_001336543.1:n.2051+99T>C
NM_001349615.1:c.2051+99T>C NP_001336544.1:n.2051+99T>C
NM_001349616.1:c.2051+99T>C NP_001336545.1:n.2051+99T>C
NM_001349617.1:c.2030+99T>C NP_001336546.1:n.2030+99T>C
NM_001349618.1:c.2030+99T>C NP_001336547.1:n.2030+99T>C
NM_001349619.1:c.1712+99T>C NP_001336548.1:n.1712+99T>C
NM_001349620.1:c.1712+99T>C NP_001336549.1:n.1712+99T>C
NM_001349621.1:c.1712+99T>C NP_001336550.1:n.1712+99T>C
NM_001349622.1:c.1712+99T>C NP_001336551.1:n.1712+99T>C
NM_001349623.1:c.1691+99T>C NP_001336552.1:n.1691+99T>C
NM_001349624.2:c.1691+99T>C NP_001336553.1:n.1691+99T>C
NM_001349625.1:c.1691+99T>C NP_001336554.1:n.1691+99T>C
NM_001349626.1:c.1691+99T>C NP_001336555.1:n.1691+99T>C
XM_011541083.2:c.4979+99T>C XP_011539385.1:n.4979+99T>C
XM_011541084.2:c.4979+99T>C XP_011539386.1:n.4979+99T>C
XM_011541086.3:c.4958+99T>C XP_011539388.1:n.4958+99T>C
XM_011541087.2:c.4907+99T>C XP_011539389.1:n.4907+99T>C
XM_011541088.2:c.4889+99T>C XP_011539390.1:n.4889+99T>C
XM_011541090.3:c.4640+99T>C XP_011539392.1:n.4640+99T>C
XM_017000774.2:c.4979+99T>C XP_016856263.1:n.4979+99T>C
XM_017000777.1:c.4619+99T>C XP_016856266.1:n.4619+99T>C
XM_017000778.1:c.4619+99T>C XP_016856267.1:n.4619+99T>C
XM_024454329.1:c.2240+99T>C XP_024310097.1:n.2240+99T>C
XM_024454330.1:c.2219+99T>C XP_024310098.1:n.2219+99T>C
XM_024454331.1:c.2051+99T>C XP_024310099.1:n.2051+99T>C
XM_024454332.1:c.2051+99T>C XP_024310100.1:n.2051+99T>C
XM_024454333.1:c.2051+99T>C XP_024310101.1:n.2051+99T>C
XM_024454334.1:c.2051+99T>C XP_024310102.1:n.2051+99T>C
XM_024454335.1:c.2051+99T>C XP_024310103.1:n.2051+99T>C
XM_024454338.1:c.1712+99T>C XP_024310106.1:n.1712+99T>C
NM_015215.4:c.4958+99T>C MANE Select NP_056030.1:n.4958+99T>C
NM_001349608.2:c.4868+99T>C NP_001336537.1:n.4868+99T>C
NM_001349609.2:c.4640+99T>C NP_001336538.1:n.4640+99T>C
NM_001349610.2:c.4634+99T>C NP_001336539.1:n.4634+99T>C
NM_001349612.2:c.4550+99T>C NP_001336541.1:n.4550+99T>C
NM_001349615.2:c.2051+99T>C NP_001336544.1:n.2051+99T>C
NM_001349616.2:c.2051+99T>C NP_001336545.1:n.2051+99T>C
NM_001349618.2:c.2030+99T>C NP_001336547.1:n.2030+99T>C
NM_001349619.2:c.1712+99T>C NP_001336548.1:n.1712+99T>C
NM_001349622.2:c.1712+99T>C NP_001336551.1:n.1712+99T>C
NM_001349624.3:c.1691+99T>C NP_001336553.1:n.1691+99T>C
NM_001349626.2:c.1691+99T>C NP_001336555.1:n.1691+99T>C
NM_001349625.2:c.1691+99T>C NP_001336554.1:n.1691+99T>C