Canonical Allele Identifier: CA338145445

Gene: CAMTA1

Linked Data

• MyVariant Identifiers: chr1:g.7812569G>T (hg19) ; chr1:g.7752509G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7752509G>T , CM000663.2:g.7752509G>T	GRCh38
NC_000001.10:g.7812569G>T , CM000663.1:g.7812569G>T	GRCh37
NC_000001.9:g.7735156G>T	NCBI36
NG_053148.1:g.972186G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000710284.1:c.1688G>T	ENSP00000518174.1:p.Arg563Met
ENST00000710285.1:c.2027G>T	ENSP00000518175.1:p.Arg676Met
ENST00000476864.2:c.4595G>T	ENSP00000452319.2:p.Arg1532Met
ENST00000495233.6:c.2256G>T
ENST00000700414.1:c.*4467G>T	ENSP00000514978.1:n.*4467G>T
ENST00000700415.1:c.4526G>T	ENSP00000514979.1:p.Arg1509Met
ENST00000700417.1:c.4523G>T	ENSP00000514981.1:p.Arg1508Met
ENST00000700419.1:c.2780G>T	ENSP00000514983.1:p.Arg927Met
ENST00000700420.1:c.1985G>T	ENSP00000514994.1:p.Arg662Met
ENST00000700421.1:c.2006G>T	ENSP00000514995.1:p.Arg669Met
ENST00000700422.1:n.1108G>T
ENST00000700423.1:c.1688G>T	ENSP00000514996.1:p.Arg563Met
ENST00000700424.1:c.1688G>T	ENSP00000514997.1:p.Arg563Met
ENST00000700425.1:c.1646G>T	ENSP00000514998.1:p.Arg549Met
ENST00000700445.1:c.2280G>T
ENST00000700446.1:n.3330G>T
ENST00000700447.1:n.2614G>T
ENST00000700448.1:c.618G>T
ENST00000700449.1:c.138G>T
ENST00000303635.12:c.4934G>T MANE Select	ENSP00000306522.6:p.Arg1645Met
ENST00000303635.11:c.4934G>T	ENSP00000306522.6:p.Arg1645Met
ENST00000476864.1:c.626G>T	ENSP00000452319.1:p.Arg209Met
ENST00000490905.5:c.631G>T
ENST00000495233.5:c.1825G>T
NM_015215.3:c.4934G>T	NP_056030.1:p.Arg1645Met
XM_011541083.1:c.4955G>T	XP_011539385.1:p.Arg1652Met
XM_011541084.1:c.4955G>T	XP_011539386.1:p.Arg1652Met
XM_011541085.1:c.4943G>T	XP_011539387.1:p.Arg1648Met
XM_011541086.1:c.4934G>T	XP_011539388.1:p.Arg1645Met
XM_011541087.1:c.4883G>T	XP_011539389.1:p.Arg1628Met
XM_011541088.1:c.4865G>T	XP_011539390.1:p.Arg1622Met
XM_011541089.1:c.4616G>T	XP_011539391.1:p.Arg1539Met
XM_011541090.1:c.4616G>T	XP_011539392.1:p.Arg1539Met
NM_001349608.1:c.4844G>T	NP_001336537.1:p.Arg1615Met
NM_001349609.1:c.4616G>T	NP_001336538.1:p.Arg1539Met
NM_001349610.1:c.4610G>T	NP_001336539.1:p.Arg1537Met
NM_001349612.1:c.4526G>T	NP_001336541.1:p.Arg1509Met
NM_001349613.1:c.2063G>T	NP_001336542.1:p.Arg688Met
NM_001349614.1:c.2027G>T	NP_001336543.1:p.Arg676Met
NM_001349615.1:c.2027G>T	NP_001336544.1:p.Arg676Met
NM_001349616.1:c.2027G>T	NP_001336545.1:p.Arg676Met
NM_001349617.1:c.2006G>T	NP_001336546.1:p.Arg669Met
NM_001349618.1:c.2006G>T	NP_001336547.1:p.Arg669Met
NM_001349619.1:c.1688G>T	NP_001336548.1:p.Arg563Met
NM_001349620.1:c.1688G>T	NP_001336549.1:p.Arg563Met
NM_001349621.1:c.1688G>T	NP_001336550.1:p.Arg563Met
NM_001349622.1:c.1688G>T	NP_001336551.1:p.Arg563Met
NM_001349623.1:c.1667G>T	NP_001336552.1:p.Arg556Met
NM_001349624.2:c.1667G>T	NP_001336553.1:p.Arg556Met
NM_001349625.1:c.1667G>T	NP_001336554.1:p.Arg556Met
NM_001349626.1:c.1667G>T	NP_001336555.1:p.Arg556Met
XM_011541083.2:c.4955G>T	XP_011539385.1:p.Arg1652Met
XM_011541084.2:c.4955G>T	XP_011539386.1:p.Arg1652Met
XM_011541086.3:c.4934G>T	XP_011539388.1:p.Arg1645Met
XM_011541087.2:c.4883G>T	XP_011539389.1:p.Arg1628Met
XM_011541088.2:c.4865G>T	XP_011539390.1:p.Arg1622Met
XM_011541090.3:c.4616G>T	XP_011539392.1:p.Arg1539Met
XM_017000774.2:c.4955G>T	XP_016856263.1:p.Arg1652Met
XM_017000777.1:c.4595G>T	XP_016856266.1:p.Arg1532Met
XM_017000778.1:c.4595G>T	XP_016856267.1:p.Arg1532Met
XM_024454329.1:c.2216G>T	XP_024310097.1:p.Arg739Met
XM_024454330.1:c.2195G>T	XP_024310098.1:p.Arg732Met
XM_024454331.1:c.2027G>T	XP_024310099.1:p.Arg676Met
XM_024454332.1:c.2027G>T	XP_024310100.1:p.Arg676Met
XM_024454333.1:c.2027G>T	XP_024310101.1:p.Arg676Met
XM_024454334.1:c.2027G>T	XP_024310102.1:p.Arg676Met
XM_024454335.1:c.2027G>T	XP_024310103.1:p.Arg676Met
XM_024454338.1:c.1688G>T	XP_024310106.1:p.Arg563Met
NM_015215.4:c.4934G>T MANE Select	NP_056030.1:p.Arg1645Met
NM_001349608.2:c.4844G>T	NP_001336537.1:p.Arg1615Met
NM_001349609.2:c.4616G>T	NP_001336538.1:p.Arg1539Met
NM_001349610.2:c.4610G>T	NP_001336539.1:p.Arg1537Met
NM_001349612.2:c.4526G>T	NP_001336541.1:p.Arg1509Met
NM_001349615.2:c.2027G>T	NP_001336544.1:p.Arg676Met
NM_001349616.2:c.2027G>T	NP_001336545.1:p.Arg676Met
NM_001349618.2:c.2006G>T	NP_001336547.1:p.Arg669Met
NM_001349619.2:c.1688G>T	NP_001336548.1:p.Arg563Met
NM_001349622.2:c.1688G>T	NP_001336551.1:p.Arg563Met
NM_001349624.3:c.1667G>T	NP_001336553.1:p.Arg556Met
NM_001349626.2:c.1667G>T	NP_001336555.1:p.Arg556Met
NM_001349625.2:c.1667G>T	NP_001336554.1:p.Arg556Met