Canonical Allele Identifier: CA344131660

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201040621C>T , CM000663.2:g.201040621C>T	GRCh38
NC_000001.10:g.201009749C>T , CM000663.1:g.201009749C>T	GRCh37
NC_000001.9:g.199276372C>T	NCBI36
NG_009816.1:g.76946G>A
NG_009816.2:g.76946G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_000069.3:c.5226+1G>A MANE Select	NP_000060.2:n.5226+1G>A
ENST00000362061.4:c.5226+1G>A MANE Select	ENSP00000355192.3:n.5226+1G>A
NM_000069.2:c.5226+1G>A	NP_000060.2:n.5226+1G>A
ENST00000362061.3:c.5226+1G>A	ENSP00000355192.3:n.5226+1G>A
ENST00000367338.7:c.5169+1G>A	ENSP00000356307.3:n.5169+1G>A
ENST00000679417.1:c.*4389+1G>A	ENSP00000506706.1:n.*4389+1G>A
ENST00000680059.1:c.*2744+1G>A	ENSP00000504944.1:n.*2744+1G>A
ENST00000681078.1:c.*1001+1G>A	ENSP00000506645.1:n.*1001+1G>A
ENST00000681190.1:c.*1408+1G>A	ENSP00000506428.1:n.*1408+1G>A
ENST00000681874.1:c.5166+1G>A	ENSP00000505162.1:n.5166+1G>A
XM_005245478.2:c.5169+1G>A	XP_005245535.1:n.5169+1G>A
XM_005245478.3:c.5169+1G>A	XP_005245535.1:n.5169+1G>A
XR_001738364.1:n.1652-1234C>T
XR_001738365.1:n.1562-1234C>T
XR_001738366.1:n.1355-1234C>T
XR_001738367.1:n.1568-1234C>T
XR_001738368.1:n.1464-1234C>T
XR_001738369.1:n.1240-1234C>T
XR_001738370.1:n.1192-1234C>T
XR_001738371.1:n.586-1234C>T
XR_001738372.1:n.1058-1234C>T
XR_241170.3:n.1465-1234C>T
XR_922405.1:n.2003-1234C>T
XR_922405.3:n.2113-1234C>T
XR_922406.1:n.2281-1234C>T
XR_922407.1:n.2191-1234C>T
XR_922407.3:n.2301-1234C>T
XR_922408.1:n.1369-1234C>T
XR_922408.2:n.1374-1234C>T
XR_922409.1:n.1984-1234C>T
XR_922410.1:n.1391-1234C>T
XR_922410.2:n.1383-1234C>T
XR_922411.1:n.1983-1234C>T
XR_922412.1:n.2197-1234C>T
XR_922413.1:n.2093-1234C>T
XR_922414.1:n.1300-1234C>T
XR_922414.2:n.1292-1234C>T
XR_922415.1:n.1869-1234C>T
XR_922416.1:n.1309-1234C>T
XR_922416.2:n.1301-1234C>T
XR_922417.1:n.1887-1234C>T
XR_922417.3:n.1997-1234C>T
XR_922418.1:n.1821-1234C>T
XR_922419.1:n.1215-1234C>T
XR_922420.1:n.1687-1234C>T