Canonical Allele Identifier: CA415825974

Gene: CAMTA1

Linked Data

• MyVariant Identifiers: chr1:g.7812525T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.7752465T>C , CM000663.2:g.7752465T>C	GRCh38
NC_000001.10:g.7812525T>C , CM000663.1:g.7812525T>C	GRCh37
NC_000001.9:g.7735112T>C	NCBI36
NG_053148.1:g.972142T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710284.1:c.1644T>C	ENSP00000518174.1:p.Ser548=
ENST00000710285.1:c.1983T>C	ENSP00000518175.1:p.Ser661=
ENST00000476864.2:c.4551T>C	ENSP00000452319.2:p.Ser1517=
ENST00000495233.6:c.2212T>C
ENST00000700414.1:c.*4423T>C	ENSP00000514978.1:n.*4423T>C
ENST00000700415.1:c.4482T>C	ENSP00000514979.1:p.Ser1494=
ENST00000700417.1:c.4479T>C	ENSP00000514981.1:p.Ser1493=
ENST00000700419.1:c.2736T>C	ENSP00000514983.1:p.Ser912=
ENST00000700420.1:c.1941T>C	ENSP00000514994.1:p.Ser647=
ENST00000700421.1:c.1962T>C	ENSP00000514995.1:p.Ser654=
ENST00000700422.1:n.1064T>C
ENST00000700423.1:c.1644T>C	ENSP00000514996.1:p.Ser548=
ENST00000700424.1:c.1644T>C	ENSP00000514997.1:p.Ser548=
ENST00000700425.1:c.1602T>C	ENSP00000514998.1:p.Ser534=
ENST00000700445.1:c.2236T>C
ENST00000700446.1:n.3286T>C
ENST00000700447.1:n.2570T>C
ENST00000700448.1:c.574T>C
ENST00000700449.1:c.94T>C
ENST00000303635.12:c.4890T>C MANE Select	ENSP00000306522.6:p.Ser1630=
ENST00000303635.11:c.4890T>C	ENSP00000306522.6:p.Ser1630=
ENST00000476864.1:c.582T>C	ENSP00000452319.1:p.Ser194=
ENST00000490905.5:c.587T>C
ENST00000495233.5:c.1781T>C
NM_015215.3:c.4890T>C	NP_056030.1:p.Ser1630=
XM_011541083.1:c.4911T>C	XP_011539385.1:p.Ser1637=
XM_011541084.1:c.4911T>C	XP_011539386.1:p.Ser1637=
XM_011541085.1:c.4899T>C	XP_011539387.1:p.Ser1633=
XM_011541086.1:c.4890T>C	XP_011539388.1:p.Ser1630=
XM_011541087.1:c.4839T>C	XP_011539389.1:p.Ser1613=
XM_011541088.1:c.4821T>C	XP_011539390.1:p.Ser1607=
XM_011541089.1:c.4572T>C	XP_011539391.1:p.Ser1524=
XM_011541090.1:c.4572T>C	XP_011539392.1:p.Ser1524=
NM_001349608.1:c.4800T>C	NP_001336537.1:p.Ser1600=
NM_001349609.1:c.4572T>C	NP_001336538.1:p.Ser1524=
NM_001349610.1:c.4566T>C	NP_001336539.1:p.Ser1522=
NM_001349612.1:c.4482T>C	NP_001336541.1:p.Ser1494=
NM_001349613.1:c.2019T>C	NP_001336542.1:p.Ser673=
NM_001349614.1:c.1983T>C	NP_001336543.1:p.Ser661=
NM_001349615.1:c.1983T>C	NP_001336544.1:p.Ser661=
NM_001349616.1:c.1983T>C	NP_001336545.1:p.Ser661=
NM_001349617.1:c.1962T>C	NP_001336546.1:p.Ser654=
NM_001349618.1:c.1962T>C	NP_001336547.1:p.Ser654=
NM_001349619.1:c.1644T>C	NP_001336548.1:p.Ser548=
NM_001349620.1:c.1644T>C	NP_001336549.1:p.Ser548=
NM_001349621.1:c.1644T>C	NP_001336550.1:p.Ser548=
NM_001349622.1:c.1644T>C	NP_001336551.1:p.Ser548=
NM_001349623.1:c.1623T>C	NP_001336552.1:p.Ser541=
NM_001349624.2:c.1623T>C	NP_001336553.1:p.Ser541=
NM_001349625.1:c.1623T>C	NP_001336554.1:p.Ser541=
NM_001349626.1:c.1623T>C	NP_001336555.1:p.Ser541=
XM_011541083.2:c.4911T>C	XP_011539385.1:p.Ser1637=
XM_011541084.2:c.4911T>C	XP_011539386.1:p.Ser1637=
XM_011541086.3:c.4890T>C	XP_011539388.1:p.Ser1630=
XM_011541087.2:c.4839T>C	XP_011539389.1:p.Ser1613=
XM_011541088.2:c.4821T>C	XP_011539390.1:p.Ser1607=
XM_011541090.3:c.4572T>C	XP_011539392.1:p.Ser1524=
XM_017000774.2:c.4911T>C	XP_016856263.1:p.Ser1637=
XM_017000777.1:c.4551T>C	XP_016856266.1:p.Ser1517=
XM_017000778.1:c.4551T>C	XP_016856267.1:p.Ser1517=
XM_024454329.1:c.2172T>C	XP_024310097.1:p.Ser724=
XM_024454330.1:c.2151T>C	XP_024310098.1:p.Ser717=
XM_024454331.1:c.1983T>C	XP_024310099.1:p.Ser661=
XM_024454332.1:c.1983T>C	XP_024310100.1:p.Ser661=
XM_024454333.1:c.1983T>C	XP_024310101.1:p.Ser661=
XM_024454334.1:c.1983T>C	XP_024310102.1:p.Ser661=
XM_024454335.1:c.1983T>C	XP_024310103.1:p.Ser661=
XM_024454338.1:c.1644T>C	XP_024310106.1:p.Ser548=
NM_015215.4:c.4890T>C MANE Select	NP_056030.1:p.Ser1630=
NM_001349608.2:c.4800T>C	NP_001336537.1:p.Ser1600=
NM_001349609.2:c.4572T>C	NP_001336538.1:p.Ser1524=
NM_001349610.2:c.4566T>C	NP_001336539.1:p.Ser1522=
NM_001349612.2:c.4482T>C	NP_001336541.1:p.Ser1494=
NM_001349615.2:c.1983T>C	NP_001336544.1:p.Ser661=
NM_001349616.2:c.1983T>C	NP_001336545.1:p.Ser661=
NM_001349618.2:c.1962T>C	NP_001336547.1:p.Ser654=
NM_001349619.2:c.1644T>C	NP_001336548.1:p.Ser548=
NM_001349622.2:c.1644T>C	NP_001336551.1:p.Ser548=
NM_001349624.3:c.1623T>C	NP_001336553.1:p.Ser541=
NM_001349626.2:c.1623T>C	NP_001336555.1:p.Ser541=
NM_001349625.2:c.1623T>C	NP_001336554.1:p.Ser541=