Canonical Allele Identifier: CA338145076

Gene: CAMTA1

Linked Data

• gnomAD v4: 1-7752461-G-T
• MyVariant Identifiers: chr1:g.7812521G>T (hg19) ; chr1:g.7752461G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7752461G>T , CM000663.2:g.7752461G>T	GRCh38
NC_000001.10:g.7812521G>T , CM000663.1:g.7812521G>T	GRCh37
NC_000001.9:g.7735108G>T	NCBI36
NG_053148.1:g.972138G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710284.1:c.1640G>T	ENSP00000518174.1:p.Ser547Ile
ENST00000710285.1:c.1979G>T	ENSP00000518175.1:p.Ser660Ile
ENST00000476864.2:c.4547G>T	ENSP00000452319.2:p.Ser1516Ile
ENST00000495233.6:c.2208G>T
ENST00000700414.1:c.*4419G>T	ENSP00000514978.1:n.*4419G>T
ENST00000700415.1:c.4478G>T	ENSP00000514979.1:p.Ser1493Ile
ENST00000700417.1:c.4475G>T	ENSP00000514981.1:p.Ser1492Ile
ENST00000700419.1:c.2732G>T	ENSP00000514983.1:p.Ser911Ile
ENST00000700420.1:c.1937G>T	ENSP00000514994.1:p.Ser646Ile
ENST00000700421.1:c.1958G>T	ENSP00000514995.1:p.Ser653Ile
ENST00000700422.1:n.1060G>T
ENST00000700423.1:c.1640G>T	ENSP00000514996.1:p.Ser547Ile
ENST00000700424.1:c.1640G>T	ENSP00000514997.1:p.Ser547Ile
ENST00000700425.1:c.1598G>T	ENSP00000514998.1:p.Ser533Ile
ENST00000700445.1:c.2232G>T
ENST00000700446.1:n.3282G>T
ENST00000700447.1:n.2566G>T
ENST00000700448.1:c.574-4G>T
ENST00000700449.1:c.90G>T
ENST00000303635.12:c.4886G>T MANE Select	ENSP00000306522.6:p.Ser1629Ile
ENST00000303635.11:c.4886G>T	ENSP00000306522.6:p.Ser1629Ile
ENST00000476864.1:c.578G>T	ENSP00000452319.1:p.Ser193Ile
ENST00000490905.5:c.583G>T
ENST00000495233.5:c.1777G>T
NM_015215.3:c.4886G>T	NP_056030.1:p.Ser1629Ile
XM_011541083.1:c.4907G>T	XP_011539385.1:p.Ser1636Ile
XM_011541084.1:c.4907G>T	XP_011539386.1:p.Ser1636Ile
XM_011541085.1:c.4895G>T	XP_011539387.1:p.Ser1632Ile
XM_011541086.1:c.4886G>T	XP_011539388.1:p.Ser1629Ile
XM_011541087.1:c.4835G>T	XP_011539389.1:p.Ser1612Ile
XM_011541088.1:c.4817G>T	XP_011539390.1:p.Ser1606Ile
XM_011541089.1:c.4568G>T	XP_011539391.1:p.Ser1523Ile
XM_011541090.1:c.4568G>T	XP_011539392.1:p.Ser1523Ile
NM_001349608.1:c.4796G>T	NP_001336537.1:p.Ser1599Ile
NM_001349609.1:c.4568G>T	NP_001336538.1:p.Ser1523Ile
NM_001349610.1:c.4566-4G>T	NP_001336539.1:n.4566-4G>T
NM_001349612.1:c.4478G>T	NP_001336541.1:p.Ser1493Ile
NM_001349613.1:c.2015G>T	NP_001336542.1:p.Ser672Ile
NM_001349614.1:c.1979G>T	NP_001336543.1:p.Ser660Ile
NM_001349615.1:c.1979G>T	NP_001336544.1:p.Ser660Ile
NM_001349616.1:c.1979G>T	NP_001336545.1:p.Ser660Ile
NM_001349617.1:c.1958G>T	NP_001336546.1:p.Ser653Ile
NM_001349618.1:c.1958G>T	NP_001336547.1:p.Ser653Ile
NM_001349619.1:c.1640G>T	NP_001336548.1:p.Ser547Ile
NM_001349620.1:c.1640G>T	NP_001336549.1:p.Ser547Ile
NM_001349621.1:c.1640G>T	NP_001336550.1:p.Ser547Ile
NM_001349622.1:c.1640G>T	NP_001336551.1:p.Ser547Ile
NM_001349623.1:c.1619G>T	NP_001336552.1:p.Ser540Ile
NM_001349624.2:c.1619G>T	NP_001336553.1:p.Ser540Ile
NM_001349625.1:c.1619G>T	NP_001336554.1:p.Ser540Ile
NM_001349626.1:c.1619G>T	NP_001336555.1:p.Ser540Ile
XM_011541083.2:c.4907G>T	XP_011539385.1:p.Ser1636Ile
XM_011541084.2:c.4907G>T	XP_011539386.1:p.Ser1636Ile
XM_011541086.3:c.4886G>T	XP_011539388.1:p.Ser1629Ile
XM_011541087.2:c.4835G>T	XP_011539389.1:p.Ser1612Ile
XM_011541088.2:c.4817G>T	XP_011539390.1:p.Ser1606Ile
XM_011541090.3:c.4568G>T	XP_011539392.1:p.Ser1523Ile
XM_017000774.2:c.4907G>T	XP_016856263.1:p.Ser1636Ile
XM_017000777.1:c.4547G>T	XP_016856266.1:p.Ser1516Ile
XM_017000778.1:c.4547G>T	XP_016856267.1:p.Ser1516Ile
XM_024454329.1:c.2168G>T	XP_024310097.1:p.Ser723Ile
XM_024454330.1:c.2147G>T	XP_024310098.1:p.Ser716Ile
XM_024454331.1:c.1979G>T	XP_024310099.1:p.Ser660Ile
XM_024454332.1:c.1979G>T	XP_024310100.1:p.Ser660Ile
XM_024454333.1:c.1979G>T	XP_024310101.1:p.Ser660Ile
XM_024454334.1:c.1979G>T	XP_024310102.1:p.Ser660Ile
XM_024454335.1:c.1979G>T	XP_024310103.1:p.Ser660Ile
XM_024454338.1:c.1640G>T	XP_024310106.1:p.Ser547Ile
NM_015215.4:c.4886G>T MANE Select	NP_056030.1:p.Ser1629Ile
NM_001349608.2:c.4796G>T	NP_001336537.1:p.Ser1599Ile
NM_001349609.2:c.4568G>T	NP_001336538.1:p.Ser1523Ile
NM_001349610.2:c.4566-4G>T	NP_001336539.1:n.4566-4G>T
NM_001349612.2:c.4478G>T	NP_001336541.1:p.Ser1493Ile
NM_001349615.2:c.1979G>T	NP_001336544.1:p.Ser660Ile
NM_001349616.2:c.1979G>T	NP_001336545.1:p.Ser660Ile
NM_001349618.2:c.1958G>T	NP_001336547.1:p.Ser653Ile
NM_001349619.2:c.1640G>T	NP_001336548.1:p.Ser547Ile
NM_001349622.2:c.1640G>T	NP_001336551.1:p.Ser547Ile
NM_001349624.3:c.1619G>T	NP_001336553.1:p.Ser540Ile
NM_001349626.2:c.1619G>T	NP_001336555.1:p.Ser540Ile
NM_001349625.2:c.1619G>T	NP_001336554.1:p.Ser540Ile