Canonical Allele Identifier: CA415825975

Gene: CAMTA1

Linked Data

• gnomAD v4: 1-7752466-T-C
• MyVariant Identifiers: chr1:g.7812526T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7752466T>C , CM000663.2:g.7752466T>C	GRCh38
NC_000001.10:g.7812526T>C , CM000663.1:g.7812526T>C	GRCh37
NC_000001.9:g.7735113T>C	NCBI36
NG_053148.1:g.972143T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710284.1:c.1645T>C	ENSP00000518174.1:p.Leu549=
ENST00000710285.1:c.1984T>C	ENSP00000518175.1:p.Leu662=
ENST00000476864.2:c.4552T>C	ENSP00000452319.2:p.Leu1518=
ENST00000495233.6:c.2213T>C
ENST00000700414.1:c.*4424T>C	ENSP00000514978.1:n.*4424T>C
ENST00000700415.1:c.4483T>C	ENSP00000514979.1:p.Leu1495=
ENST00000700417.1:c.4480T>C	ENSP00000514981.1:p.Leu1494=
ENST00000700419.1:c.2737T>C	ENSP00000514983.1:p.Leu913=
ENST00000700420.1:c.1942T>C	ENSP00000514994.1:p.Leu648=
ENST00000700421.1:c.1963T>C	ENSP00000514995.1:p.Leu655=
ENST00000700422.1:n.1065T>C
ENST00000700423.1:c.1645T>C	ENSP00000514996.1:p.Leu549=
ENST00000700424.1:c.1645T>C	ENSP00000514997.1:p.Leu549=
ENST00000700425.1:c.1603T>C	ENSP00000514998.1:p.Leu535=
ENST00000700445.1:c.2237T>C
ENST00000700446.1:n.3287T>C
ENST00000700447.1:n.2571T>C
ENST00000700448.1:c.575T>C
ENST00000700449.1:c.95T>C
ENST00000303635.12:c.4891T>C MANE Select	ENSP00000306522.6:p.Leu1631=
ENST00000303635.11:c.4891T>C	ENSP00000306522.6:p.Leu1631=
ENST00000476864.1:c.583T>C	ENSP00000452319.1:p.Leu195=
ENST00000490905.5:c.588T>C
ENST00000495233.5:c.1782T>C
NM_015215.3:c.4891T>C	NP_056030.1:p.Leu1631=
XM_011541083.1:c.4912T>C	XP_011539385.1:p.Leu1638=
XM_011541084.1:c.4912T>C	XP_011539386.1:p.Leu1638=
XM_011541085.1:c.4900T>C	XP_011539387.1:p.Leu1634=
XM_011541086.1:c.4891T>C	XP_011539388.1:p.Leu1631=
XM_011541087.1:c.4840T>C	XP_011539389.1:p.Leu1614=
XM_011541088.1:c.4822T>C	XP_011539390.1:p.Leu1608=
XM_011541089.1:c.4573T>C	XP_011539391.1:p.Leu1525=
XM_011541090.1:c.4573T>C	XP_011539392.1:p.Leu1525=
NM_001349608.1:c.4801T>C	NP_001336537.1:p.Leu1601=
NM_001349609.1:c.4573T>C	NP_001336538.1:p.Leu1525=
NM_001349610.1:c.4567T>C	NP_001336539.1:p.Leu1523=
NM_001349612.1:c.4483T>C	NP_001336541.1:p.Leu1495=
NM_001349613.1:c.2020T>C	NP_001336542.1:p.Leu674=
NM_001349614.1:c.1984T>C	NP_001336543.1:p.Leu662=
NM_001349615.1:c.1984T>C	NP_001336544.1:p.Leu662=
NM_001349616.1:c.1984T>C	NP_001336545.1:p.Leu662=
NM_001349617.1:c.1963T>C	NP_001336546.1:p.Leu655=
NM_001349618.1:c.1963T>C	NP_001336547.1:p.Leu655=
NM_001349619.1:c.1645T>C	NP_001336548.1:p.Leu549=
NM_001349620.1:c.1645T>C	NP_001336549.1:p.Leu549=
NM_001349621.1:c.1645T>C	NP_001336550.1:p.Leu549=
NM_001349622.1:c.1645T>C	NP_001336551.1:p.Leu549=
NM_001349623.1:c.1624T>C	NP_001336552.1:p.Leu542=
NM_001349624.2:c.1624T>C	NP_001336553.1:p.Leu542=
NM_001349625.1:c.1624T>C	NP_001336554.1:p.Leu542=
NM_001349626.1:c.1624T>C	NP_001336555.1:p.Leu542=
XM_011541083.2:c.4912T>C	XP_011539385.1:p.Leu1638=
XM_011541084.2:c.4912T>C	XP_011539386.1:p.Leu1638=
XM_011541086.3:c.4891T>C	XP_011539388.1:p.Leu1631=
XM_011541087.2:c.4840T>C	XP_011539389.1:p.Leu1614=
XM_011541088.2:c.4822T>C	XP_011539390.1:p.Leu1608=
XM_011541090.3:c.4573T>C	XP_011539392.1:p.Leu1525=
XM_017000774.2:c.4912T>C	XP_016856263.1:p.Leu1638=
XM_017000777.1:c.4552T>C	XP_016856266.1:p.Leu1518=
XM_017000778.1:c.4552T>C	XP_016856267.1:p.Leu1518=
XM_024454329.1:c.2173T>C	XP_024310097.1:p.Leu725=
XM_024454330.1:c.2152T>C	XP_024310098.1:p.Leu718=
XM_024454331.1:c.1984T>C	XP_024310099.1:p.Leu662=
XM_024454332.1:c.1984T>C	XP_024310100.1:p.Leu662=
XM_024454333.1:c.1984T>C	XP_024310101.1:p.Leu662=
XM_024454334.1:c.1984T>C	XP_024310102.1:p.Leu662=
XM_024454335.1:c.1984T>C	XP_024310103.1:p.Leu662=
XM_024454338.1:c.1645T>C	XP_024310106.1:p.Leu549=
NM_015215.4:c.4891T>C MANE Select	NP_056030.1:p.Leu1631=
NM_001349608.2:c.4801T>C	NP_001336537.1:p.Leu1601=
NM_001349609.2:c.4573T>C	NP_001336538.1:p.Leu1525=
NM_001349610.2:c.4567T>C	NP_001336539.1:p.Leu1523=
NM_001349612.2:c.4483T>C	NP_001336541.1:p.Leu1495=
NM_001349615.2:c.1984T>C	NP_001336544.1:p.Leu662=
NM_001349616.2:c.1984T>C	NP_001336545.1:p.Leu662=
NM_001349618.2:c.1963T>C	NP_001336547.1:p.Leu655=
NM_001349619.2:c.1645T>C	NP_001336548.1:p.Leu549=
NM_001349622.2:c.1645T>C	NP_001336551.1:p.Leu549=
NM_001349624.3:c.1624T>C	NP_001336553.1:p.Leu542=
NM_001349626.2:c.1624T>C	NP_001336555.1:p.Leu542=
NM_001349625.2:c.1624T>C	NP_001336554.1:p.Leu542=