Canonical Allele Identifier: CA083842
Community Standard Title: NM_000069.3(CACNA1S):c.5381G>A (p.Arg1794Gln)
Gene: CACNA1S HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201040072C>T , CM000663.2:g.201040072C>T GRCh38
NC_000001.10:g.201009200C>T , CM000663.1:g.201009200C>T GRCh37
NC_000001.9:g.199275823C>T NCBI36
NG_009816.1:g.77495G>A
NG_009816.2:g.77495G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000069.3:c.5381G>A MANE Select NP_000060.2:p.Arg1794Gln
ENST00000362061.4:c.5381G>A MANE Select ENSP00000355192.3:p.Arg1794Gln
NM_000069.2:c.5381G>A NP_000060.2:p.Arg1794Gln
ENST00000362061.3:c.5381G>A ENSP00000355192.3:p.Arg1794Gln
ENST00000367338.7:c.5324G>A ENSP00000356307.3:p.Arg1775Gln
ENST00000679417.1:c.*4544G>A ENSP00000506706.1:n.*4544G>A
ENST00000680059.1:c.*2899G>A ENSP00000504944.1:n.*2899G>A
ENST00000681078.1:c.*1156G>A ENSP00000506645.1:n.*1156G>A
ENST00000681190.1:c.*1563G>A ENSP00000506428.1:n.*1563G>A
ENST00000681874.1:c.5321G>A ENSP00000505162.1:p.Arg1774Gln
XM_005245478.2:c.5324G>A XP_005245535.1:p.Arg1775Gln
XM_005245478.3:c.5324G>A XP_005245535.1:p.Arg1775Gln
XR_001738364.1:n.1652-1783C>T
XR_001738365.1:n.1562-1783C>T
XR_001738366.1:n.1355-1783C>T
XR_001738367.1:n.1568-1783C>T
XR_001738368.1:n.1464-1783C>T
XR_001738369.1:n.1240-1783C>T
XR_001738370.1:n.1192-1783C>T
XR_001738371.1:n.586-1783C>T
XR_001738372.1:n.1058-1783C>T
XR_241170.3:n.1465-1783C>T
XR_922405.1:n.2003-1783C>T
XR_922405.3:n.2113-1783C>T
XR_922406.1:n.2281-1783C>T
XR_922407.1:n.2191-1783C>T
XR_922407.3:n.2301-1783C>T
XR_922408.1:n.1369-1783C>T
XR_922408.2:n.1374-1783C>T
XR_922409.1:n.1984-1783C>T
XR_922410.1:n.1391-1783C>T
XR_922410.2:n.1383-1783C>T
XR_922411.1:n.1983-1783C>T
XR_922412.1:n.2197-1783C>T
XR_922413.1:n.2093-1783C>T
XR_922414.1:n.1300-1783C>T
XR_922414.2:n.1292-1783C>T
XR_922415.1:n.1869-1783C>T
XR_922416.1:n.1309-1783C>T
XR_922416.2:n.1301-1783C>T
XR_922417.1:n.1887-1783C>T
XR_922417.3:n.1997-1783C>T
XR_922418.1:n.1821-1783C>T
XR_922419.1:n.1215-1783C>T
XR_922420.1:n.1687-1783C>T