Canonical Allele Identifier: CA338145125

Gene: CAMTA1

Linked Data

• COSMIC: COSM6294145 ; COSM6294146
• MyVariant Identifiers: chr1:g.7812528G>T (hg19) ; chr1:g.7752468G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7752468G>T , CM000663.2:g.7752468G>T	GRCh38
NC_000001.10:g.7812528G>T , CM000663.1:g.7812528G>T	GRCh37
NC_000001.9:g.7735115G>T	NCBI36
NG_053148.1:g.972145G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710284.1:c.1647G>T	ENSP00000518174.1:p.Leu549Phe
ENST00000710285.1:c.1986G>T	ENSP00000518175.1:p.Leu662Phe
ENST00000476864.2:c.4554G>T	ENSP00000452319.2:p.Leu1518Phe
ENST00000495233.6:c.2215G>T
ENST00000700414.1:c.*4426G>T	ENSP00000514978.1:n.*4426G>T
ENST00000700415.1:c.4485G>T	ENSP00000514979.1:p.Leu1495Phe
ENST00000700417.1:c.4482G>T	ENSP00000514981.1:p.Leu1494Phe
ENST00000700419.1:c.2739G>T	ENSP00000514983.1:p.Leu913Phe
ENST00000700420.1:c.1944G>T	ENSP00000514994.1:p.Leu648Phe
ENST00000700421.1:c.1965G>T	ENSP00000514995.1:p.Leu655Phe
ENST00000700422.1:n.1067G>T
ENST00000700423.1:c.1647G>T	ENSP00000514996.1:p.Leu549Phe
ENST00000700424.1:c.1647G>T	ENSP00000514997.1:p.Leu549Phe
ENST00000700425.1:c.1605G>T	ENSP00000514998.1:p.Leu535Phe
ENST00000700445.1:c.2239G>T
ENST00000700446.1:n.3289G>T
ENST00000700447.1:n.2573G>T
ENST00000700448.1:c.577G>T
ENST00000700449.1:c.97G>T
ENST00000303635.12:c.4893G>T MANE Select	ENSP00000306522.6:p.Leu1631Phe
ENST00000303635.11:c.4893G>T	ENSP00000306522.6:p.Leu1631Phe
ENST00000476864.1:c.585G>T	ENSP00000452319.1:p.Leu195Phe
ENST00000490905.5:c.590G>T
ENST00000495233.5:c.1784G>T
NM_015215.3:c.4893G>T	NP_056030.1:p.Leu1631Phe
XM_011541083.1:c.4914G>T	XP_011539385.1:p.Leu1638Phe
XM_011541084.1:c.4914G>T	XP_011539386.1:p.Leu1638Phe
XM_011541085.1:c.4902G>T	XP_011539387.1:p.Leu1634Phe
XM_011541086.1:c.4893G>T	XP_011539388.1:p.Leu1631Phe
XM_011541087.1:c.4842G>T	XP_011539389.1:p.Leu1614Phe
XM_011541088.1:c.4824G>T	XP_011539390.1:p.Leu1608Phe
XM_011541089.1:c.4575G>T	XP_011539391.1:p.Leu1525Phe
XM_011541090.1:c.4575G>T	XP_011539392.1:p.Leu1525Phe
NM_001349608.1:c.4803G>T	NP_001336537.1:p.Leu1601Phe
NM_001349609.1:c.4575G>T	NP_001336538.1:p.Leu1525Phe
NM_001349610.1:c.4569G>T	NP_001336539.1:p.Leu1523Phe
NM_001349612.1:c.4485G>T	NP_001336541.1:p.Leu1495Phe
NM_001349613.1:c.2022G>T	NP_001336542.1:p.Leu674Phe
NM_001349614.1:c.1986G>T	NP_001336543.1:p.Leu662Phe
NM_001349615.1:c.1986G>T	NP_001336544.1:p.Leu662Phe
NM_001349616.1:c.1986G>T	NP_001336545.1:p.Leu662Phe
NM_001349617.1:c.1965G>T	NP_001336546.1:p.Leu655Phe
NM_001349618.1:c.1965G>T	NP_001336547.1:p.Leu655Phe
NM_001349619.1:c.1647G>T	NP_001336548.1:p.Leu549Phe
NM_001349620.1:c.1647G>T	NP_001336549.1:p.Leu549Phe
NM_001349621.1:c.1647G>T	NP_001336550.1:p.Leu549Phe
NM_001349622.1:c.1647G>T	NP_001336551.1:p.Leu549Phe
NM_001349623.1:c.1626G>T	NP_001336552.1:p.Leu542Phe
NM_001349624.2:c.1626G>T	NP_001336553.1:p.Leu542Phe
NM_001349625.1:c.1626G>T	NP_001336554.1:p.Leu542Phe
NM_001349626.1:c.1626G>T	NP_001336555.1:p.Leu542Phe
XM_011541083.2:c.4914G>T	XP_011539385.1:p.Leu1638Phe
XM_011541084.2:c.4914G>T	XP_011539386.1:p.Leu1638Phe
XM_011541086.3:c.4893G>T	XP_011539388.1:p.Leu1631Phe
XM_011541087.2:c.4842G>T	XP_011539389.1:p.Leu1614Phe
XM_011541088.2:c.4824G>T	XP_011539390.1:p.Leu1608Phe
XM_011541090.3:c.4575G>T	XP_011539392.1:p.Leu1525Phe
XM_017000774.2:c.4914G>T	XP_016856263.1:p.Leu1638Phe
XM_017000777.1:c.4554G>T	XP_016856266.1:p.Leu1518Phe
XM_017000778.1:c.4554G>T	XP_016856267.1:p.Leu1518Phe
XM_024454329.1:c.2175G>T	XP_024310097.1:p.Leu725Phe
XM_024454330.1:c.2154G>T	XP_024310098.1:p.Leu718Phe
XM_024454331.1:c.1986G>T	XP_024310099.1:p.Leu662Phe
XM_024454332.1:c.1986G>T	XP_024310100.1:p.Leu662Phe
XM_024454333.1:c.1986G>T	XP_024310101.1:p.Leu662Phe
XM_024454334.1:c.1986G>T	XP_024310102.1:p.Leu662Phe
XM_024454335.1:c.1986G>T	XP_024310103.1:p.Leu662Phe
XM_024454338.1:c.1647G>T	XP_024310106.1:p.Leu549Phe
NM_015215.4:c.4893G>T MANE Select	NP_056030.1:p.Leu1631Phe
NM_001349608.2:c.4803G>T	NP_001336537.1:p.Leu1601Phe
NM_001349609.2:c.4575G>T	NP_001336538.1:p.Leu1525Phe
NM_001349610.2:c.4569G>T	NP_001336539.1:p.Leu1523Phe
NM_001349612.2:c.4485G>T	NP_001336541.1:p.Leu1495Phe
NM_001349615.2:c.1986G>T	NP_001336544.1:p.Leu662Phe
NM_001349616.2:c.1986G>T	NP_001336545.1:p.Leu662Phe
NM_001349618.2:c.1965G>T	NP_001336547.1:p.Leu655Phe
NM_001349619.2:c.1647G>T	NP_001336548.1:p.Leu549Phe
NM_001349622.2:c.1647G>T	NP_001336551.1:p.Leu549Phe
NM_001349624.3:c.1626G>T	NP_001336553.1:p.Leu542Phe
NM_001349626.2:c.1626G>T	NP_001336555.1:p.Leu542Phe
NM_001349625.2:c.1626G>T	NP_001336554.1:p.Leu542Phe