Canonical Allele Identifier: CA338145091

Gene: CAMTA1

Linked Data

• MyVariant Identifiers: chr1:g.7812523A>T (hg19) ; chr1:g.7752463A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7752463A>T , CM000663.2:g.7752463A>T	GRCh38
NC_000001.10:g.7812523A>T , CM000663.1:g.7812523A>T	GRCh37
NC_000001.9:g.7735110A>T	NCBI36
NG_053148.1:g.972140A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710284.1:c.1642A>T	ENSP00000518174.1:p.Ser548Cys
ENST00000710285.1:c.1981A>T	ENSP00000518175.1:p.Ser661Cys
ENST00000476864.2:c.4549A>T	ENSP00000452319.2:p.Ser1517Cys
ENST00000495233.6:c.2210A>T
ENST00000700414.1:c.*4421A>T	ENSP00000514978.1:n.*4421A>T
ENST00000700415.1:c.4480A>T	ENSP00000514979.1:p.Ser1494Cys
ENST00000700417.1:c.4477A>T	ENSP00000514981.1:p.Ser1493Cys
ENST00000700419.1:c.2734A>T	ENSP00000514983.1:p.Ser912Cys
ENST00000700420.1:c.1939A>T	ENSP00000514994.1:p.Ser647Cys
ENST00000700421.1:c.1960A>T	ENSP00000514995.1:p.Ser654Cys
ENST00000700422.1:n.1062A>T
ENST00000700423.1:c.1642A>T	ENSP00000514996.1:p.Ser548Cys
ENST00000700424.1:c.1642A>T	ENSP00000514997.1:p.Ser548Cys
ENST00000700425.1:c.1600A>T	ENSP00000514998.1:p.Ser534Cys
ENST00000700445.1:c.2234A>T
ENST00000700446.1:n.3284A>T
ENST00000700447.1:n.2568A>T
ENST00000700448.1:c.574-2A>T
ENST00000700449.1:c.92A>T
ENST00000303635.12:c.4888A>T MANE Select	ENSP00000306522.6:p.Ser1630Cys
ENST00000303635.11:c.4888A>T	ENSP00000306522.6:p.Ser1630Cys
ENST00000476864.1:c.580A>T	ENSP00000452319.1:p.Ser194Cys
ENST00000490905.5:c.585A>T
ENST00000495233.5:c.1779A>T
NM_015215.3:c.4888A>T	NP_056030.1:p.Ser1630Cys
XM_011541083.1:c.4909A>T	XP_011539385.1:p.Ser1637Cys
XM_011541084.1:c.4909A>T	XP_011539386.1:p.Ser1637Cys
XM_011541085.1:c.4897A>T	XP_011539387.1:p.Ser1633Cys
XM_011541086.1:c.4888A>T	XP_011539388.1:p.Ser1630Cys
XM_011541087.1:c.4837A>T	XP_011539389.1:p.Ser1613Cys
XM_011541088.1:c.4819A>T	XP_011539390.1:p.Ser1607Cys
XM_011541089.1:c.4570A>T	XP_011539391.1:p.Ser1524Cys
XM_011541090.1:c.4570A>T	XP_011539392.1:p.Ser1524Cys
NM_001349608.1:c.4798A>T	NP_001336537.1:p.Ser1600Cys
NM_001349609.1:c.4570A>T	NP_001336538.1:p.Ser1524Cys
NM_001349610.1:c.4566-2A>T	NP_001336539.1:n.4566-2A>T
NM_001349612.1:c.4480A>T	NP_001336541.1:p.Ser1494Cys
NM_001349613.1:c.2017A>T	NP_001336542.1:p.Ser673Cys
NM_001349614.1:c.1981A>T	NP_001336543.1:p.Ser661Cys
NM_001349615.1:c.1981A>T	NP_001336544.1:p.Ser661Cys
NM_001349616.1:c.1981A>T	NP_001336545.1:p.Ser661Cys
NM_001349617.1:c.1960A>T	NP_001336546.1:p.Ser654Cys
NM_001349618.1:c.1960A>T	NP_001336547.1:p.Ser654Cys
NM_001349619.1:c.1642A>T	NP_001336548.1:p.Ser548Cys
NM_001349620.1:c.1642A>T	NP_001336549.1:p.Ser548Cys
NM_001349621.1:c.1642A>T	NP_001336550.1:p.Ser548Cys
NM_001349622.1:c.1642A>T	NP_001336551.1:p.Ser548Cys
NM_001349623.1:c.1621A>T	NP_001336552.1:p.Ser541Cys
NM_001349624.2:c.1621A>T	NP_001336553.1:p.Ser541Cys
NM_001349625.1:c.1621A>T	NP_001336554.1:p.Ser541Cys
NM_001349626.1:c.1621A>T	NP_001336555.1:p.Ser541Cys
XM_011541083.2:c.4909A>T	XP_011539385.1:p.Ser1637Cys
XM_011541084.2:c.4909A>T	XP_011539386.1:p.Ser1637Cys
XM_011541086.3:c.4888A>T	XP_011539388.1:p.Ser1630Cys
XM_011541087.2:c.4837A>T	XP_011539389.1:p.Ser1613Cys
XM_011541088.2:c.4819A>T	XP_011539390.1:p.Ser1607Cys
XM_011541090.3:c.4570A>T	XP_011539392.1:p.Ser1524Cys
XM_017000774.2:c.4909A>T	XP_016856263.1:p.Ser1637Cys
XM_017000777.1:c.4549A>T	XP_016856266.1:p.Ser1517Cys
XM_017000778.1:c.4549A>T	XP_016856267.1:p.Ser1517Cys
XM_024454329.1:c.2170A>T	XP_024310097.1:p.Ser724Cys
XM_024454330.1:c.2149A>T	XP_024310098.1:p.Ser717Cys
XM_024454331.1:c.1981A>T	XP_024310099.1:p.Ser661Cys
XM_024454332.1:c.1981A>T	XP_024310100.1:p.Ser661Cys
XM_024454333.1:c.1981A>T	XP_024310101.1:p.Ser661Cys
XM_024454334.1:c.1981A>T	XP_024310102.1:p.Ser661Cys
XM_024454335.1:c.1981A>T	XP_024310103.1:p.Ser661Cys
XM_024454338.1:c.1642A>T	XP_024310106.1:p.Ser548Cys
NM_015215.4:c.4888A>T MANE Select	NP_056030.1:p.Ser1630Cys
NM_001349608.2:c.4798A>T	NP_001336537.1:p.Ser1600Cys
NM_001349609.2:c.4570A>T	NP_001336538.1:p.Ser1524Cys
NM_001349610.2:c.4566-2A>T	NP_001336539.1:n.4566-2A>T
NM_001349612.2:c.4480A>T	NP_001336541.1:p.Ser1494Cys
NM_001349615.2:c.1981A>T	NP_001336544.1:p.Ser661Cys
NM_001349616.2:c.1981A>T	NP_001336545.1:p.Ser661Cys
NM_001349618.2:c.1960A>T	NP_001336547.1:p.Ser654Cys
NM_001349619.2:c.1642A>T	NP_001336548.1:p.Ser548Cys
NM_001349622.2:c.1642A>T	NP_001336551.1:p.Ser548Cys
NM_001349624.3:c.1621A>T	NP_001336553.1:p.Ser541Cys
NM_001349626.2:c.1621A>T	NP_001336555.1:p.Ser541Cys
NM_001349625.2:c.1621A>T	NP_001336554.1:p.Ser541Cys