Canonical Allele Identifier: CA344131516
Community Standard Title: NM_000069.3(CACNA1S):c.5229C>A (p.Cys1743Ter)
Gene: CACNA1S HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201040372G>T , CM000663.2:g.201040372G>T GRCh38
NC_000001.10:g.201009500G>T , CM000663.1:g.201009500G>T GRCh37
NC_000001.9:g.199276123G>T NCBI36
NG_009816.1:g.77195C>A
NG_009816.2:g.77195C>A

Transcript Alleles

HGVS Amino-acid Change
NM_000069.3:c.5229C>A MANE Select NP_000060.2:p.Cys1743Ter
ENST00000362061.4:c.5229C>A MANE Select ENSP00000355192.3:p.Cys1743Ter
NM_000069.2:c.5229C>A NP_000060.2:p.Cys1743Ter
ENST00000362061.3:c.5229C>A ENSP00000355192.3:p.Cys1743Ter
ENST00000367338.7:c.5172C>A ENSP00000356307.3:p.Cys1724Ter
ENST00000679417.1:c.*4392C>A ENSP00000506706.1:n.*4392C>A
ENST00000680059.1:c.*2747C>A ENSP00000504944.1:n.*2747C>A
ENST00000681078.1:c.*1004C>A ENSP00000506645.1:n.*1004C>A
ENST00000681190.1:c.*1411C>A ENSP00000506428.1:n.*1411C>A
ENST00000681874.1:c.5169C>A ENSP00000505162.1:p.Cys1723Ter
XM_005245478.2:c.5172C>A XP_005245535.1:p.Cys1724Ter
XM_005245478.3:c.5172C>A XP_005245535.1:p.Cys1724Ter
XR_001738364.1:n.1652-1483G>T
XR_001738365.1:n.1562-1483G>T
XR_001738366.1:n.1355-1483G>T
XR_001738367.1:n.1568-1483G>T
XR_001738368.1:n.1464-1483G>T
XR_001738369.1:n.1240-1483G>T
XR_001738370.1:n.1192-1483G>T
XR_001738371.1:n.586-1483G>T
XR_001738372.1:n.1058-1483G>T
XR_241170.3:n.1465-1483G>T
XR_922405.1:n.2003-1483G>T
XR_922405.3:n.2113-1483G>T
XR_922406.1:n.2281-1483G>T
XR_922407.1:n.2191-1483G>T
XR_922407.3:n.2301-1483G>T
XR_922408.1:n.1369-1483G>T
XR_922408.2:n.1374-1483G>T
XR_922409.1:n.1984-1483G>T
XR_922410.1:n.1391-1483G>T
XR_922410.2:n.1383-1483G>T
XR_922411.1:n.1983-1483G>T
XR_922412.1:n.2197-1483G>T
XR_922413.1:n.2093-1483G>T
XR_922414.1:n.1300-1483G>T
XR_922414.2:n.1292-1483G>T
XR_922415.1:n.1869-1483G>T
XR_922416.1:n.1309-1483G>T
XR_922416.2:n.1301-1483G>T
XR_922417.1:n.1887-1483G>T
XR_922417.3:n.1997-1483G>T
XR_922418.1:n.1821-1483G>T
XR_922419.1:n.1215-1483G>T
XR_922420.1:n.1687-1483G>T