Canonical Allele Identifier: CA8653578
Gene: CACNA1G HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.50623923C>T , CM000679.2:g.50623923C>T GRCh38
NC_000017.10:g.48701284C>T , CM000679.1:g.48701284C>T GRCh37
NC_000017.9:g.46056283C>T NCBI36
NG_032024.1:g.67856C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000359106.10:c.6077C>T MANE Select ENSP00000352011.5:p.Thr2026Met
ENST00000352832.9:c.5696C>T ENSP00000339302.5:p.Thr1899Met
ENST00000354983.8:c.5975C>T ENSP00000347078.4:p.Thr1992Met
ENST00000358244.9:c.5696C>T ENSP00000350979.5:p.Thr1899Met
ENST00000359106.9:c.6077C>T ENSP00000352011.5:p.Thr2026Met
ENST00000360761.8:c.5729C>T ENSP00000353990.4:p.Thr1910Met
ENST00000429973.6:c.5744C>T ENSP00000414388.2:p.Thr1915Met
ENST00000442258.6:c.5675C>T ENSP00000409759.2:p.Thr1892Met
ENST00000502264.5:c.5864C>T ENSP00000425522.1:p.Thr1955Met
ENST00000503436.5:c.5680C>T ENSP00000427231.1:n.5680C>T
ENST00000503485.5:c.5696C>T ENSP00000427238.1:p.Thr1899Met
ENST00000503607.5:c.5626C>T ENSP00000426558.1:n.5626C>T
ENST00000504076.5:c.5716C>T ENSP00000425153.1:n.5716C>T
ENST00000505165.5:c.5798C>T ENSP00000422268.1:p.Thr1933Met
ENST00000506406.5:c.5749C>T ENSP00000426313.1:n.5749C>T
ENST00000507336.5:c.6044C>T ENSP00000420918.1:p.Thr2015Met
ENST00000507510.6:c.5942C>T ENSP00000423112.2:p.Thr1981Met
ENST00000507609.5:c.5777C>T ENSP00000423045.1:p.Thr1926Met
ENST00000507896.5:c.5765C>T ENSP00000421518.1:p.Thr1922Met
ENST00000510115.5:c.5840C>T ENSP00000427173.1:p.Thr1947Met
ENST00000510366.5:c.5642C>T ENSP00000426814.1:p.Thr1881Met
ENST00000511765.5:c.5695C>T ENSP00000427247.1:n.5695C>T
ENST00000511768.5:c.5659C>T ENSP00000424664.1:n.5659C>T
ENST00000512389.5:c.5765C>T ENSP00000426261.1:p.Thr1922Met
ENST00000513689.6:c.5807C>T ENSP00000426172.2:p.Thr1936Met
ENST00000513964.5:c.5663C>T ENSP00000425451.1:p.Thr1888Met
ENST00000514079.5:c.5819C>T ENSP00000423317.1:p.Thr1940Met
ENST00000514181.5:c.5723C>T ENSP00000425698.1:p.Thr1908Met
ENST00000514717.5:c.5627C>T ENSP00000422407.1:p.Thr1876Met
ENST00000515165.5:c.5798C>T ENSP00000426098.1:p.Thr1933Met
ENST00000515411.5:c.5888C>T ENSP00000423155.1:p.Thr1963Met
ENST00000515765.5:c.5909C>T ENSP00000426232.1:p.Thr1970Met
NM_001256324.1:c.5888C>T NP_001243253.1:p.Thr1963Met
NM_001256325.1:c.5819C>T NP_001243254.1:p.Thr1940Met
NM_001256326.1:c.5807C>T NP_001243255.1:p.Thr1936Met
NM_001256327.1:c.5777C>T NP_001243256.1:p.Thr1926Met
NM_001256328.1:c.5723C>T NP_001243257.1:p.Thr1908Met
NM_001256329.1:c.5696C>T NP_001243258.1:p.Thr1899Met
NM_001256330.1:c.5663C>T NP_001243259.1:p.Thr1888Met
NM_001256331.1:c.5642C>T NP_001243260.1:p.Thr1881Met
NM_001256332.1:c.5627C>T NP_001243261.1:p.Thr1876Met
NM_001256333.1:c.5798C>T NP_001243262.1:p.Thr1933Met
NM_001256334.1:c.5765C>T NP_001243263.1:p.Thr1922Met
NM_001256359.1:c.5717C>T NP_001243288.1:p.Thr1906Met
NM_001256360.1:c.5690C>T NP_001243289.1:p.Thr1897Met
NM_001256361.1:c.5684C>T NP_001243290.1:p.Thr1895Met
NM_018896.4:c.6077C>T NP_061496.2:p.Thr2026Met
NM_198376.2:c.5696C>T NP_938190.1:p.Thr1899Met
NM_198377.2:c.6044C>T NP_938191.2:p.Thr2015Met
NM_198378.2:c.5765C>T NP_938192.1:p.Thr1922Met
NM_198379.2:c.5840C>T NP_938193.1:p.Thr1947Met
NM_198380.2:c.5909C>T NP_938194.1:p.Thr1970Met
NM_198382.2:c.5729C>T NP_938196.1:p.Thr1910Met
NM_198383.2:c.5864C>T NP_938197.1:p.Thr1955Met
NM_198384.2:c.5798C>T NP_938198.1:p.Thr1933Met
NM_198385.2:c.5942C>T NP_938199.1:p.Thr1981Met
NM_198386.2:c.5744C>T NP_938200.1:p.Thr1915Met
NM_198387.2:c.5696C>T NP_938201.1:p.Thr1899Met
NM_198388.2:c.5675C>T NP_938202.1:p.Thr1892Met
NM_198396.2:c.5975C>T NP_938406.1:p.Thr1992Met
NR_046054.1:n.6141C>T
NR_046055.1:n.6108C>T
NR_046056.1:n.6087C>T
NR_046057.1:n.6072C>T
NR_046058.1:n.6018C>T
XM_006722160.2:c.5750C>T XP_006722223.1:p.Thr1917Met
XM_006722161.2:c.5678C>T XP_006722224.1:p.Thr1893Met
XM_011525440.1:c.5963C>T XP_011523742.1:p.Thr1988Met
XM_006722160.4:c.5750C>T XP_006722223.1:p.Thr1917Met
XM_006722161.4:c.5678C>T XP_006722224.1:p.Thr1893Met
NM_018896.5:c.6077C>T MANE Select NP_061496.2:p.Thr2026Met
NM_001256324.2:c.5888C>T NP_001243253.1:p.Thr1963Met
NM_001256325.2:c.5819C>T NP_001243254.1:p.Thr1940Met
NM_001256326.2:c.5807C>T NP_001243255.1:p.Thr1936Met
NM_001256327.2:c.5777C>T NP_001243256.1:p.Thr1926Met
NM_001256328.2:c.5723C>T NP_001243257.1:p.Thr1908Met
NM_001256329.2:c.5696C>T NP_001243258.1:p.Thr1899Met
NM_001256330.2:c.5663C>T NP_001243259.1:p.Thr1888Met
NM_001256331.2:c.5642C>T NP_001243260.1:p.Thr1881Met
NM_001256332.2:c.5627C>T NP_001243261.1:p.Thr1876Met
NM_001256333.2:c.5798C>T NP_001243262.1:p.Thr1933Met
NM_001256334.2:c.5765C>T NP_001243263.1:p.Thr1922Met
NM_001256359.2:c.5717C>T NP_001243288.1:p.Thr1906Met
NM_001256360.2:c.5690C>T NP_001243289.1:p.Thr1897Met
NM_001256361.2:c.5684C>T NP_001243290.1:p.Thr1895Met
NM_198376.3:c.5696C>T NP_938190.1:p.Thr1899Met
NM_198377.3:c.6044C>T NP_938191.2:p.Thr2015Met
NM_198378.3:c.5765C>T NP_938192.1:p.Thr1922Met
NM_198379.3:c.5840C>T NP_938193.1:p.Thr1947Met
NM_198380.3:c.5909C>T NP_938194.1:p.Thr1970Met
NM_198383.3:c.5864C>T NP_938197.1:p.Thr1955Met
NM_198384.3:c.5798C>T NP_938198.1:p.Thr1933Met
NM_198385.3:c.5942C>T NP_938199.1:p.Thr1981Met
NM_198386.3:c.5744C>T NP_938200.1:p.Thr1915Met
NM_198387.3:c.5696C>T NP_938201.1:p.Thr1899Met
NM_198388.3:c.5675C>T NP_938202.1:p.Thr1892Met
NR_046054.2:n.6494C>T
NR_046055.2:n.6461C>T
NR_046056.2:n.6440C>T
NR_046057.2:n.6425C>T
NR_046058.2:n.6371C>T
NM_198382.3:c.5729C>T NP_938196.1:p.Thr1910Met
NM_198396.3:c.5975C>T NP_938406.1:p.Thr1992Met