Canonical Allele Identifier: CA415826005
Gene: CAMTA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.7812552T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.7752492T>A , CM000663.2:g.7752492T>A GRCh38
NC_000001.10:g.7812552T>A , CM000663.1:g.7812552T>A GRCh37
NC_000001.9:g.7735139T>A NCBI36
NG_053148.1:g.972169T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000710284.1:c.1671T>A ENSP00000518174.1:p.Ala557=
ENST00000710285.1:c.2010T>A ENSP00000518175.1:p.Ala670=
ENST00000476864.2:c.4578T>A ENSP00000452319.2:p.Ala1526=
ENST00000495233.6:c.2239T>A
ENST00000700414.1:c.*4450T>A ENSP00000514978.1:n.*4450T>A
ENST00000700415.1:c.4509T>A ENSP00000514979.1:p.Ala1503=
ENST00000700417.1:c.4506T>A ENSP00000514981.1:p.Ala1502=
ENST00000700419.1:c.2763T>A ENSP00000514983.1:p.Ala921=
ENST00000700420.1:c.1968T>A ENSP00000514994.1:p.Ala656=
ENST00000700421.1:c.1989T>A ENSP00000514995.1:p.Ala663=
ENST00000700422.1:n.1091T>A
ENST00000700423.1:c.1671T>A ENSP00000514996.1:p.Ala557=
ENST00000700424.1:c.1671T>A ENSP00000514997.1:p.Ala557=
ENST00000700425.1:c.1629T>A ENSP00000514998.1:p.Ala543=
ENST00000700445.1:c.2263T>A
ENST00000700446.1:n.3313T>A
ENST00000700447.1:n.2597T>A
ENST00000700448.1:c.601T>A
ENST00000700449.1:c.121T>A
ENST00000303635.12:c.4917T>A MANE Select ENSP00000306522.6:p.Ala1639=
ENST00000303635.11:c.4917T>A ENSP00000306522.6:p.Ala1639=
ENST00000476864.1:c.609T>A ENSP00000452319.1:p.Ala203=
ENST00000490905.5:c.614T>A
ENST00000495233.5:c.1808T>A
NM_015215.3:c.4917T>A NP_056030.1:p.Ala1639=
XM_011541083.1:c.4938T>A XP_011539385.1:p.Ala1646=
XM_011541084.1:c.4938T>A XP_011539386.1:p.Ala1646=
XM_011541085.1:c.4926T>A XP_011539387.1:p.Ala1642=
XM_011541086.1:c.4917T>A XP_011539388.1:p.Ala1639=
XM_011541087.1:c.4866T>A XP_011539389.1:p.Ala1622=
XM_011541088.1:c.4848T>A XP_011539390.1:p.Ala1616=
XM_011541089.1:c.4599T>A XP_011539391.1:p.Ala1533=
XM_011541090.1:c.4599T>A XP_011539392.1:p.Ala1533=
NM_001349608.1:c.4827T>A NP_001336537.1:p.Ala1609=
NM_001349609.1:c.4599T>A NP_001336538.1:p.Ala1533=
NM_001349610.1:c.4593T>A NP_001336539.1:p.Ala1531=
NM_001349612.1:c.4509T>A NP_001336541.1:p.Ala1503=
NM_001349613.1:c.2046T>A NP_001336542.1:p.Ala682=
NM_001349614.1:c.2010T>A NP_001336543.1:p.Ala670=
NM_001349615.1:c.2010T>A NP_001336544.1:p.Ala670=
NM_001349616.1:c.2010T>A NP_001336545.1:p.Ala670=
NM_001349617.1:c.1989T>A NP_001336546.1:p.Ala663=
NM_001349618.1:c.1989T>A NP_001336547.1:p.Ala663=
NM_001349619.1:c.1671T>A NP_001336548.1:p.Ala557=
NM_001349620.1:c.1671T>A NP_001336549.1:p.Ala557=
NM_001349621.1:c.1671T>A NP_001336550.1:p.Ala557=
NM_001349622.1:c.1671T>A NP_001336551.1:p.Ala557=
NM_001349623.1:c.1650T>A NP_001336552.1:p.Ala550=
NM_001349624.2:c.1650T>A NP_001336553.1:p.Ala550=
NM_001349625.1:c.1650T>A NP_001336554.1:p.Ala550=
NM_001349626.1:c.1650T>A NP_001336555.1:p.Ala550=
XM_011541083.2:c.4938T>A XP_011539385.1:p.Ala1646=
XM_011541084.2:c.4938T>A XP_011539386.1:p.Ala1646=
XM_011541086.3:c.4917T>A XP_011539388.1:p.Ala1639=
XM_011541087.2:c.4866T>A XP_011539389.1:p.Ala1622=
XM_011541088.2:c.4848T>A XP_011539390.1:p.Ala1616=
XM_011541090.3:c.4599T>A XP_011539392.1:p.Ala1533=
XM_017000774.2:c.4938T>A XP_016856263.1:p.Ala1646=
XM_017000777.1:c.4578T>A XP_016856266.1:p.Ala1526=
XM_017000778.1:c.4578T>A XP_016856267.1:p.Ala1526=
XM_024454329.1:c.2199T>A XP_024310097.1:p.Ala733=
XM_024454330.1:c.2178T>A XP_024310098.1:p.Ala726=
XM_024454331.1:c.2010T>A XP_024310099.1:p.Ala670=
XM_024454332.1:c.2010T>A XP_024310100.1:p.Ala670=
XM_024454333.1:c.2010T>A XP_024310101.1:p.Ala670=
XM_024454334.1:c.2010T>A XP_024310102.1:p.Ala670=
XM_024454335.1:c.2010T>A XP_024310103.1:p.Ala670=
XM_024454338.1:c.1671T>A XP_024310106.1:p.Ala557=
NM_015215.4:c.4917T>A MANE Select NP_056030.1:p.Ala1639=
NM_001349608.2:c.4827T>A NP_001336537.1:p.Ala1609=
NM_001349609.2:c.4599T>A NP_001336538.1:p.Ala1533=
NM_001349610.2:c.4593T>A NP_001336539.1:p.Ala1531=
NM_001349612.2:c.4509T>A NP_001336541.1:p.Ala1503=
NM_001349615.2:c.2010T>A NP_001336544.1:p.Ala670=
NM_001349616.2:c.2010T>A NP_001336545.1:p.Ala670=
NM_001349618.2:c.1989T>A NP_001336547.1:p.Ala663=
NM_001349619.2:c.1671T>A NP_001336548.1:p.Ala557=
NM_001349622.2:c.1671T>A NP_001336551.1:p.Ala557=
NM_001349624.3:c.1650T>A NP_001336553.1:p.Ala550=
NM_001349626.2:c.1650T>A NP_001336555.1:p.Ala550=
NM_001349625.2:c.1650T>A NP_001336554.1:p.Ala550=