Canonical Allele Identifier: CA338145460

Gene: CAMTA1

Linked Data

• MyVariant Identifiers: chr1:g.7812571T>A (hg19) ; chr1:g.7752511T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7752511T>A , CM000663.2:g.7752511T>A	GRCh38
NC_000001.10:g.7812571T>A , CM000663.1:g.7812571T>A	GRCh37
NC_000001.9:g.7735158T>A	NCBI36
NG_053148.1:g.972188T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710284.1:c.1690T>A	ENSP00000518174.1:p.Phe564Ile
ENST00000710285.1:c.2029T>A	ENSP00000518175.1:p.Phe677Ile
ENST00000476864.2:c.4597T>A	ENSP00000452319.2:p.Phe1533Ile
ENST00000495233.6:c.2258T>A
ENST00000700414.1:c.*4469T>A	ENSP00000514978.1:n.*4469T>A
ENST00000700415.1:c.4528T>A	ENSP00000514979.1:p.Phe1510Ile
ENST00000700417.1:c.4525T>A	ENSP00000514981.1:p.Phe1509Ile
ENST00000700419.1:c.2782T>A	ENSP00000514983.1:p.Phe928Ile
ENST00000700420.1:c.1987T>A	ENSP00000514994.1:p.Phe663Ile
ENST00000700421.1:c.2008T>A	ENSP00000514995.1:p.Phe670Ile
ENST00000700422.1:n.1110T>A
ENST00000700423.1:c.1690T>A	ENSP00000514996.1:p.Phe564Ile
ENST00000700424.1:c.1690T>A	ENSP00000514997.1:p.Phe564Ile
ENST00000700425.1:c.1648T>A	ENSP00000514998.1:p.Phe550Ile
ENST00000700445.1:c.2282T>A
ENST00000700446.1:n.3332T>A
ENST00000700447.1:n.2616T>A
ENST00000700448.1:c.620T>A
ENST00000700449.1:c.140T>A
ENST00000303635.12:c.4936T>A MANE Select	ENSP00000306522.6:p.Phe1646Ile
ENST00000303635.11:c.4936T>A	ENSP00000306522.6:p.Phe1646Ile
ENST00000476864.1:c.628T>A	ENSP00000452319.1:p.Phe210Ile
ENST00000490905.5:c.633T>A
ENST00000495233.5:c.1827T>A
NM_015215.3:c.4936T>A	NP_056030.1:p.Phe1646Ile
XM_011541083.1:c.4957T>A	XP_011539385.1:p.Phe1653Ile
XM_011541084.1:c.4957T>A	XP_011539386.1:p.Phe1653Ile
XM_011541085.1:c.4945T>A	XP_011539387.1:p.Phe1649Ile
XM_011541086.1:c.4936T>A	XP_011539388.1:p.Phe1646Ile
XM_011541087.1:c.4885T>A	XP_011539389.1:p.Phe1629Ile
XM_011541088.1:c.4867T>A	XP_011539390.1:p.Phe1623Ile
XM_011541089.1:c.4618T>A	XP_011539391.1:p.Phe1540Ile
XM_011541090.1:c.4618T>A	XP_011539392.1:p.Phe1540Ile
NM_001349608.1:c.4846T>A	NP_001336537.1:p.Phe1616Ile
NM_001349609.1:c.4618T>A	NP_001336538.1:p.Phe1540Ile
NM_001349610.1:c.4612T>A	NP_001336539.1:p.Phe1538Ile
NM_001349612.1:c.4528T>A	NP_001336541.1:p.Phe1510Ile
NM_001349613.1:c.2065T>A	NP_001336542.1:p.Phe689Ile
NM_001349614.1:c.2029T>A	NP_001336543.1:p.Phe677Ile
NM_001349615.1:c.2029T>A	NP_001336544.1:p.Phe677Ile
NM_001349616.1:c.2029T>A	NP_001336545.1:p.Phe677Ile
NM_001349617.1:c.2008T>A	NP_001336546.1:p.Phe670Ile
NM_001349618.1:c.2008T>A	NP_001336547.1:p.Phe670Ile
NM_001349619.1:c.1690T>A	NP_001336548.1:p.Phe564Ile
NM_001349620.1:c.1690T>A	NP_001336549.1:p.Phe564Ile
NM_001349621.1:c.1690T>A	NP_001336550.1:p.Phe564Ile
NM_001349622.1:c.1690T>A	NP_001336551.1:p.Phe564Ile
NM_001349623.1:c.1669T>A	NP_001336552.1:p.Phe557Ile
NM_001349624.2:c.1669T>A	NP_001336553.1:p.Phe557Ile
NM_001349625.1:c.1669T>A	NP_001336554.1:p.Phe557Ile
NM_001349626.1:c.1669T>A	NP_001336555.1:p.Phe557Ile
XM_011541083.2:c.4957T>A	XP_011539385.1:p.Phe1653Ile
XM_011541084.2:c.4957T>A	XP_011539386.1:p.Phe1653Ile
XM_011541086.3:c.4936T>A	XP_011539388.1:p.Phe1646Ile
XM_011541087.2:c.4885T>A	XP_011539389.1:p.Phe1629Ile
XM_011541088.2:c.4867T>A	XP_011539390.1:p.Phe1623Ile
XM_011541090.3:c.4618T>A	XP_011539392.1:p.Phe1540Ile
XM_017000774.2:c.4957T>A	XP_016856263.1:p.Phe1653Ile
XM_017000777.1:c.4597T>A	XP_016856266.1:p.Phe1533Ile
XM_017000778.1:c.4597T>A	XP_016856267.1:p.Phe1533Ile
XM_024454329.1:c.2218T>A	XP_024310097.1:p.Phe740Ile
XM_024454330.1:c.2197T>A	XP_024310098.1:p.Phe733Ile
XM_024454331.1:c.2029T>A	XP_024310099.1:p.Phe677Ile
XM_024454332.1:c.2029T>A	XP_024310100.1:p.Phe677Ile
XM_024454333.1:c.2029T>A	XP_024310101.1:p.Phe677Ile
XM_024454334.1:c.2029T>A	XP_024310102.1:p.Phe677Ile
XM_024454335.1:c.2029T>A	XP_024310103.1:p.Phe677Ile
XM_024454338.1:c.1690T>A	XP_024310106.1:p.Phe564Ile
NM_015215.4:c.4936T>A MANE Select	NP_056030.1:p.Phe1646Ile
NM_001349608.2:c.4846T>A	NP_001336537.1:p.Phe1616Ile
NM_001349609.2:c.4618T>A	NP_001336538.1:p.Phe1540Ile
NM_001349610.2:c.4612T>A	NP_001336539.1:p.Phe1538Ile
NM_001349612.2:c.4528T>A	NP_001336541.1:p.Phe1510Ile
NM_001349615.2:c.2029T>A	NP_001336544.1:p.Phe677Ile
NM_001349616.2:c.2029T>A	NP_001336545.1:p.Phe677Ile
NM_001349618.2:c.2008T>A	NP_001336547.1:p.Phe670Ile
NM_001349619.2:c.1690T>A	NP_001336548.1:p.Phe564Ile
NM_001349622.2:c.1690T>A	NP_001336551.1:p.Phe564Ile
NM_001349624.3:c.1669T>A	NP_001336553.1:p.Phe557Ile
NM_001349626.2:c.1669T>A	NP_001336555.1:p.Phe557Ile
NM_001349625.2:c.1669T>A	NP_001336554.1:p.Phe557Ile