Canonical Allele Identifier: CA338145585

Gene: CAMTA1

Linked Data

• dbSNP Id: rs927134133
• gnomAD v2: 1-7812587-G-T
• gnomAD v4: 1-7752527-G-T
• MyVariant Identifiers: chr1:g.7812587G>T (hg19) ; chr1:g.7752527G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7752527G>T , CM000663.2:g.7752527G>T	GRCh38
NC_000001.10:g.7812587G>T , CM000663.1:g.7812587G>T	GRCh37
NC_000001.9:g.7735174G>T	NCBI36
NG_053148.1:g.972204G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710284.1:c.1706G>T	ENSP00000518174.1:p.Arg569Leu
ENST00000710285.1:c.2045G>T	ENSP00000518175.1:p.Arg682Leu
ENST00000476864.2:c.4613G>T	ENSP00000452319.2:p.Arg1538Leu
ENST00000495233.6:c.2274G>T
ENST00000700414.1:c.*4485G>T	ENSP00000514978.1:n.*4485G>T
ENST00000700415.1:c.4544G>T	ENSP00000514979.1:p.Arg1515Leu
ENST00000700417.1:c.4541G>T	ENSP00000514981.1:p.Arg1514Leu
ENST00000700419.1:c.2798G>T	ENSP00000514983.1:p.Arg933Leu
ENST00000700420.1:c.2003G>T	ENSP00000514994.1:p.Arg668Leu
ENST00000700421.1:c.2024G>T	ENSP00000514995.1:p.Arg675Leu
ENST00000700422.1:n.1126G>T
ENST00000700423.1:c.1706G>T	ENSP00000514996.1:p.Arg569Leu
ENST00000700424.1:c.1706G>T	ENSP00000514997.1:p.Arg569Leu
ENST00000700425.1:c.1664G>T	ENSP00000514998.1:p.Arg555Leu
ENST00000700445.1:c.2298G>T
ENST00000700446.1:n.3348G>T
ENST00000700447.1:n.2632G>T
ENST00000700448.1:c.636G>T
ENST00000700449.1:c.156G>T
ENST00000303635.12:c.4952G>T MANE Select	ENSP00000306522.6:p.Arg1651Leu
ENST00000303635.11:c.4952G>T	ENSP00000306522.6:p.Arg1651Leu
ENST00000476864.1:c.644G>T	ENSP00000452319.1:p.Arg215Leu
ENST00000490905.5:c.649G>T
ENST00000495233.5:c.1843G>T
NM_015215.3:c.4952G>T	NP_056030.1:p.Arg1651Leu
XM_011541083.1:c.4973G>T	XP_011539385.1:p.Arg1658Leu
XM_011541084.1:c.4973G>T	XP_011539386.1:p.Arg1658Leu
XM_011541085.1:c.4961G>T	XP_011539387.1:p.Arg1654Leu
XM_011541086.1:c.4952G>T	XP_011539388.1:p.Arg1651Leu
XM_011541087.1:c.4901G>T	XP_011539389.1:p.Arg1634Leu
XM_011541088.1:c.4883G>T	XP_011539390.1:p.Arg1628Leu
XM_011541089.1:c.4634G>T	XP_011539391.1:p.Arg1545Leu
XM_011541090.1:c.4634G>T	XP_011539392.1:p.Arg1545Leu
NM_001349608.1:c.4862G>T	NP_001336537.1:p.Arg1621Leu
NM_001349609.1:c.4634G>T	NP_001336538.1:p.Arg1545Leu
NM_001349610.1:c.4628G>T	NP_001336539.1:p.Arg1543Leu
NM_001349612.1:c.4544G>T	NP_001336541.1:p.Arg1515Leu
NM_001349613.1:c.2081G>T	NP_001336542.1:p.Arg694Leu
NM_001349614.1:c.2045G>T	NP_001336543.1:p.Arg682Leu
NM_001349615.1:c.2045G>T	NP_001336544.1:p.Arg682Leu
NM_001349616.1:c.2045G>T	NP_001336545.1:p.Arg682Leu
NM_001349617.1:c.2024G>T	NP_001336546.1:p.Arg675Leu
NM_001349618.1:c.2024G>T	NP_001336547.1:p.Arg675Leu
NM_001349619.1:c.1706G>T	NP_001336548.1:p.Arg569Leu
NM_001349620.1:c.1706G>T	NP_001336549.1:p.Arg569Leu
NM_001349621.1:c.1706G>T	NP_001336550.1:p.Arg569Leu
NM_001349622.1:c.1706G>T	NP_001336551.1:p.Arg569Leu
NM_001349623.1:c.1685G>T	NP_001336552.1:p.Arg562Leu
NM_001349624.2:c.1685G>T	NP_001336553.1:p.Arg562Leu
NM_001349625.1:c.1685G>T	NP_001336554.1:p.Arg562Leu
NM_001349626.1:c.1685G>T	NP_001336555.1:p.Arg562Leu
XM_011541083.2:c.4973G>T	XP_011539385.1:p.Arg1658Leu
XM_011541084.2:c.4973G>T	XP_011539386.1:p.Arg1658Leu
XM_011541086.3:c.4952G>T	XP_011539388.1:p.Arg1651Leu
XM_011541087.2:c.4901G>T	XP_011539389.1:p.Arg1634Leu
XM_011541088.2:c.4883G>T	XP_011539390.1:p.Arg1628Leu
XM_011541090.3:c.4634G>T	XP_011539392.1:p.Arg1545Leu
XM_017000774.2:c.4973G>T	XP_016856263.1:p.Arg1658Leu
XM_017000777.1:c.4613G>T	XP_016856266.1:p.Arg1538Leu
XM_017000778.1:c.4613G>T	XP_016856267.1:p.Arg1538Leu
XM_024454329.1:c.2234G>T	XP_024310097.1:p.Arg745Leu
XM_024454330.1:c.2213G>T	XP_024310098.1:p.Arg738Leu
XM_024454331.1:c.2045G>T	XP_024310099.1:p.Arg682Leu
XM_024454332.1:c.2045G>T	XP_024310100.1:p.Arg682Leu
XM_024454333.1:c.2045G>T	XP_024310101.1:p.Arg682Leu
XM_024454334.1:c.2045G>T	XP_024310102.1:p.Arg682Leu
XM_024454335.1:c.2045G>T	XP_024310103.1:p.Arg682Leu
XM_024454338.1:c.1706G>T	XP_024310106.1:p.Arg569Leu
NM_015215.4:c.4952G>T MANE Select	NP_056030.1:p.Arg1651Leu
NM_001349608.2:c.4862G>T	NP_001336537.1:p.Arg1621Leu
NM_001349609.2:c.4634G>T	NP_001336538.1:p.Arg1545Leu
NM_001349610.2:c.4628G>T	NP_001336539.1:p.Arg1543Leu
NM_001349612.2:c.4544G>T	NP_001336541.1:p.Arg1515Leu
NM_001349615.2:c.2045G>T	NP_001336544.1:p.Arg682Leu
NM_001349616.2:c.2045G>T	NP_001336545.1:p.Arg682Leu
NM_001349618.2:c.2024G>T	NP_001336547.1:p.Arg675Leu
NM_001349619.2:c.1706G>T	NP_001336548.1:p.Arg569Leu
NM_001349622.2:c.1706G>T	NP_001336551.1:p.Arg569Leu
NM_001349624.3:c.1685G>T	NP_001336553.1:p.Arg562Leu
NM_001349626.2:c.1685G>T	NP_001336555.1:p.Arg562Leu
NM_001349625.2:c.1685G>T	NP_001336554.1:p.Arg562Leu