Canonical Allele Identifier: CA415826036

Gene: CAMTA1

Linked Data

• MyVariant Identifiers: chr1:g.7812573T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7752513T>C , CM000663.2:g.7752513T>C	GRCh38
NC_000001.10:g.7812573T>C , CM000663.1:g.7812573T>C	GRCh37
NC_000001.9:g.7735160T>C	NCBI36
NG_053148.1:g.972190T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000710284.1:c.1692T>C	ENSP00000518174.1:p.Phe564=
ENST00000710285.1:c.2031T>C	ENSP00000518175.1:p.Phe677=
ENST00000476864.2:c.4599T>C	ENSP00000452319.2:p.Phe1533=
ENST00000495233.6:c.2260T>C
ENST00000700414.1:c.*4471T>C	ENSP00000514978.1:n.*4471T>C
ENST00000700415.1:c.4530T>C	ENSP00000514979.1:p.Phe1510=
ENST00000700417.1:c.4527T>C	ENSP00000514981.1:p.Phe1509=
ENST00000700419.1:c.2784T>C	ENSP00000514983.1:p.Phe928=
ENST00000700420.1:c.1989T>C	ENSP00000514994.1:p.Phe663=
ENST00000700421.1:c.2010T>C	ENSP00000514995.1:p.Phe670=
ENST00000700422.1:n.1112T>C
ENST00000700423.1:c.1692T>C	ENSP00000514996.1:p.Phe564=
ENST00000700424.1:c.1692T>C	ENSP00000514997.1:p.Phe564=
ENST00000700425.1:c.1650T>C	ENSP00000514998.1:p.Phe550=
ENST00000700445.1:c.2284T>C
ENST00000700446.1:n.3334T>C
ENST00000700447.1:n.2618T>C
ENST00000700448.1:c.622T>C
ENST00000700449.1:c.142T>C
ENST00000303635.12:c.4938T>C MANE Select	ENSP00000306522.6:p.Phe1646=
ENST00000303635.11:c.4938T>C	ENSP00000306522.6:p.Phe1646=
ENST00000476864.1:c.630T>C	ENSP00000452319.1:p.Phe210=
ENST00000490905.5:c.635T>C
ENST00000495233.5:c.1829T>C
NM_015215.3:c.4938T>C	NP_056030.1:p.Phe1646=
XM_011541083.1:c.4959T>C	XP_011539385.1:p.Phe1653=
XM_011541084.1:c.4959T>C	XP_011539386.1:p.Phe1653=
XM_011541085.1:c.4947T>C	XP_011539387.1:p.Phe1649=
XM_011541086.1:c.4938T>C	XP_011539388.1:p.Phe1646=
XM_011541087.1:c.4887T>C	XP_011539389.1:p.Phe1629=
XM_011541088.1:c.4869T>C	XP_011539390.1:p.Phe1623=
XM_011541089.1:c.4620T>C	XP_011539391.1:p.Phe1540=
XM_011541090.1:c.4620T>C	XP_011539392.1:p.Phe1540=
NM_001349608.1:c.4848T>C	NP_001336537.1:p.Phe1616=
NM_001349609.1:c.4620T>C	NP_001336538.1:p.Phe1540=
NM_001349610.1:c.4614T>C	NP_001336539.1:p.Phe1538=
NM_001349612.1:c.4530T>C	NP_001336541.1:p.Phe1510=
NM_001349613.1:c.2067T>C	NP_001336542.1:p.Phe689=
NM_001349614.1:c.2031T>C	NP_001336543.1:p.Phe677=
NM_001349615.1:c.2031T>C	NP_001336544.1:p.Phe677=
NM_001349616.1:c.2031T>C	NP_001336545.1:p.Phe677=
NM_001349617.1:c.2010T>C	NP_001336546.1:p.Phe670=
NM_001349618.1:c.2010T>C	NP_001336547.1:p.Phe670=
NM_001349619.1:c.1692T>C	NP_001336548.1:p.Phe564=
NM_001349620.1:c.1692T>C	NP_001336549.1:p.Phe564=
NM_001349621.1:c.1692T>C	NP_001336550.1:p.Phe564=
NM_001349622.1:c.1692T>C	NP_001336551.1:p.Phe564=
NM_001349623.1:c.1671T>C	NP_001336552.1:p.Phe557=
NM_001349624.2:c.1671T>C	NP_001336553.1:p.Phe557=
NM_001349625.1:c.1671T>C	NP_001336554.1:p.Phe557=
NM_001349626.1:c.1671T>C	NP_001336555.1:p.Phe557=
XM_011541083.2:c.4959T>C	XP_011539385.1:p.Phe1653=
XM_011541084.2:c.4959T>C	XP_011539386.1:p.Phe1653=
XM_011541086.3:c.4938T>C	XP_011539388.1:p.Phe1646=
XM_011541087.2:c.4887T>C	XP_011539389.1:p.Phe1629=
XM_011541088.2:c.4869T>C	XP_011539390.1:p.Phe1623=
XM_011541090.3:c.4620T>C	XP_011539392.1:p.Phe1540=
XM_017000774.2:c.4959T>C	XP_016856263.1:p.Phe1653=
XM_017000777.1:c.4599T>C	XP_016856266.1:p.Phe1533=
XM_017000778.1:c.4599T>C	XP_016856267.1:p.Phe1533=
XM_024454329.1:c.2220T>C	XP_024310097.1:p.Phe740=
XM_024454330.1:c.2199T>C	XP_024310098.1:p.Phe733=
XM_024454331.1:c.2031T>C	XP_024310099.1:p.Phe677=
XM_024454332.1:c.2031T>C	XP_024310100.1:p.Phe677=
XM_024454333.1:c.2031T>C	XP_024310101.1:p.Phe677=
XM_024454334.1:c.2031T>C	XP_024310102.1:p.Phe677=
XM_024454335.1:c.2031T>C	XP_024310103.1:p.Phe677=
XM_024454338.1:c.1692T>C	XP_024310106.1:p.Phe564=
NM_015215.4:c.4938T>C MANE Select	NP_056030.1:p.Phe1646=
NM_001349608.2:c.4848T>C	NP_001336537.1:p.Phe1616=
NM_001349609.2:c.4620T>C	NP_001336538.1:p.Phe1540=
NM_001349610.2:c.4614T>C	NP_001336539.1:p.Phe1538=
NM_001349612.2:c.4530T>C	NP_001336541.1:p.Phe1510=
NM_001349615.2:c.2031T>C	NP_001336544.1:p.Phe677=
NM_001349616.2:c.2031T>C	NP_001336545.1:p.Phe677=
NM_001349618.2:c.2010T>C	NP_001336547.1:p.Phe670=
NM_001349619.2:c.1692T>C	NP_001336548.1:p.Phe564=
NM_001349622.2:c.1692T>C	NP_001336551.1:p.Phe564=
NM_001349624.3:c.1671T>C	NP_001336553.1:p.Phe557=
NM_001349626.2:c.1671T>C	NP_001336555.1:p.Phe557=
NM_001349625.2:c.1671T>C	NP_001336554.1:p.Phe557=