Canonical Allele Identifier: CA338145385

Gene: CAMTA1

Linked Data

• gnomAD v4: 1-7752503-T-C
• MyVariant Identifiers: chr1:g.7812563T>C (hg19) ; chr1:g.7752503T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7752503T>C , CM000663.2:g.7752503T>C	GRCh38
NC_000001.10:g.7812563T>C , CM000663.1:g.7812563T>C	GRCh37
NC_000001.9:g.7735150T>C	NCBI36
NG_053148.1:g.972180T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000710284.1:c.1682T>C	ENSP00000518174.1:p.Ile561Thr
ENST00000710285.1:c.2021T>C	ENSP00000518175.1:p.Ile674Thr
ENST00000476864.2:c.4589T>C	ENSP00000452319.2:p.Ile1530Thr
ENST00000495233.6:c.2250T>C
ENST00000700414.1:c.*4461T>C	ENSP00000514978.1:n.*4461T>C
ENST00000700415.1:c.4520T>C	ENSP00000514979.1:p.Ile1507Thr
ENST00000700417.1:c.4517T>C	ENSP00000514981.1:p.Ile1506Thr
ENST00000700419.1:c.2774T>C	ENSP00000514983.1:p.Ile925Thr
ENST00000700420.1:c.1979T>C	ENSP00000514994.1:p.Ile660Thr
ENST00000700421.1:c.2000T>C	ENSP00000514995.1:p.Ile667Thr
ENST00000700422.1:n.1102T>C
ENST00000700423.1:c.1682T>C	ENSP00000514996.1:p.Ile561Thr
ENST00000700424.1:c.1682T>C	ENSP00000514997.1:p.Ile561Thr
ENST00000700425.1:c.1640T>C	ENSP00000514998.1:p.Ile547Thr
ENST00000700445.1:c.2274T>C
ENST00000700446.1:n.3324T>C
ENST00000700447.1:n.2608T>C
ENST00000700448.1:c.612T>C
ENST00000700449.1:c.132T>C
ENST00000303635.12:c.4928T>C MANE Select	ENSP00000306522.6:p.Ile1643Thr
ENST00000303635.11:c.4928T>C	ENSP00000306522.6:p.Ile1643Thr
ENST00000476864.1:c.620T>C	ENSP00000452319.1:p.Ile207Thr
ENST00000490905.5:c.625T>C
ENST00000495233.5:c.1819T>C
NM_015215.3:c.4928T>C	NP_056030.1:p.Ile1643Thr
XM_011541083.1:c.4949T>C	XP_011539385.1:p.Ile1650Thr
XM_011541084.1:c.4949T>C	XP_011539386.1:p.Ile1650Thr
XM_011541085.1:c.4937T>C	XP_011539387.1:p.Ile1646Thr
XM_011541086.1:c.4928T>C	XP_011539388.1:p.Ile1643Thr
XM_011541087.1:c.4877T>C	XP_011539389.1:p.Ile1626Thr
XM_011541088.1:c.4859T>C	XP_011539390.1:p.Ile1620Thr
XM_011541089.1:c.4610T>C	XP_011539391.1:p.Ile1537Thr
XM_011541090.1:c.4610T>C	XP_011539392.1:p.Ile1537Thr
NM_001349608.1:c.4838T>C	NP_001336537.1:p.Ile1613Thr
NM_001349609.1:c.4610T>C	NP_001336538.1:p.Ile1537Thr
NM_001349610.1:c.4604T>C	NP_001336539.1:p.Ile1535Thr
NM_001349612.1:c.4520T>C	NP_001336541.1:p.Ile1507Thr
NM_001349613.1:c.2057T>C	NP_001336542.1:p.Ile686Thr
NM_001349614.1:c.2021T>C	NP_001336543.1:p.Ile674Thr
NM_001349615.1:c.2021T>C	NP_001336544.1:p.Ile674Thr
NM_001349616.1:c.2021T>C	NP_001336545.1:p.Ile674Thr
NM_001349617.1:c.2000T>C	NP_001336546.1:p.Ile667Thr
NM_001349618.1:c.2000T>C	NP_001336547.1:p.Ile667Thr
NM_001349619.1:c.1682T>C	NP_001336548.1:p.Ile561Thr
NM_001349620.1:c.1682T>C	NP_001336549.1:p.Ile561Thr
NM_001349621.1:c.1682T>C	NP_001336550.1:p.Ile561Thr
NM_001349622.1:c.1682T>C	NP_001336551.1:p.Ile561Thr
NM_001349623.1:c.1661T>C	NP_001336552.1:p.Ile554Thr
NM_001349624.2:c.1661T>C	NP_001336553.1:p.Ile554Thr
NM_001349625.1:c.1661T>C	NP_001336554.1:p.Ile554Thr
NM_001349626.1:c.1661T>C	NP_001336555.1:p.Ile554Thr
XM_011541083.2:c.4949T>C	XP_011539385.1:p.Ile1650Thr
XM_011541084.2:c.4949T>C	XP_011539386.1:p.Ile1650Thr
XM_011541086.3:c.4928T>C	XP_011539388.1:p.Ile1643Thr
XM_011541087.2:c.4877T>C	XP_011539389.1:p.Ile1626Thr
XM_011541088.2:c.4859T>C	XP_011539390.1:p.Ile1620Thr
XM_011541090.3:c.4610T>C	XP_011539392.1:p.Ile1537Thr
XM_017000774.2:c.4949T>C	XP_016856263.1:p.Ile1650Thr
XM_017000777.1:c.4589T>C	XP_016856266.1:p.Ile1530Thr
XM_017000778.1:c.4589T>C	XP_016856267.1:p.Ile1530Thr
XM_024454329.1:c.2210T>C	XP_024310097.1:p.Ile737Thr
XM_024454330.1:c.2189T>C	XP_024310098.1:p.Ile730Thr
XM_024454331.1:c.2021T>C	XP_024310099.1:p.Ile674Thr
XM_024454332.1:c.2021T>C	XP_024310100.1:p.Ile674Thr
XM_024454333.1:c.2021T>C	XP_024310101.1:p.Ile674Thr
XM_024454334.1:c.2021T>C	XP_024310102.1:p.Ile674Thr
XM_024454335.1:c.2021T>C	XP_024310103.1:p.Ile674Thr
XM_024454338.1:c.1682T>C	XP_024310106.1:p.Ile561Thr
NM_015215.4:c.4928T>C MANE Select	NP_056030.1:p.Ile1643Thr
NM_001349608.2:c.4838T>C	NP_001336537.1:p.Ile1613Thr
NM_001349609.2:c.4610T>C	NP_001336538.1:p.Ile1537Thr
NM_001349610.2:c.4604T>C	NP_001336539.1:p.Ile1535Thr
NM_001349612.2:c.4520T>C	NP_001336541.1:p.Ile1507Thr
NM_001349615.2:c.2021T>C	NP_001336544.1:p.Ile674Thr
NM_001349616.2:c.2021T>C	NP_001336545.1:p.Ile674Thr
NM_001349618.2:c.2000T>C	NP_001336547.1:p.Ile667Thr
NM_001349619.2:c.1682T>C	NP_001336548.1:p.Ile561Thr
NM_001349622.2:c.1682T>C	NP_001336551.1:p.Ile561Thr
NM_001349624.3:c.1661T>C	NP_001336553.1:p.Ile554Thr
NM_001349626.2:c.1661T>C	NP_001336555.1:p.Ile554Thr
NM_001349625.2:c.1661T>C	NP_001336554.1:p.Ile554Thr