Canonical Allele Identifier: CA528312286

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201040716G>A , CM000663.2:g.201040716G>A	GRCh38
NC_000001.10:g.201009844G>A , CM000663.1:g.201009844G>A	GRCh37
NC_000001.9:g.199276467G>A	NCBI36
NG_009816.1:g.76851C>T
NG_009816.2:g.76851C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000069.3:c.5135-3C>T MANE Select	NP_000060.2:n.5135-3C>T
ENST00000362061.4:c.5135-3C>T MANE Select	ENSP00000355192.3:n.5135-3C>T
NM_000069.2:c.5135-3C>T	NP_000060.2:n.5135-3C>T
ENST00000362061.3:c.5135-3C>T	ENSP00000355192.3:n.5135-3C>T
ENST00000367338.7:c.5078-3C>T	ENSP00000356307.3:n.5078-3C>T
ENST00000679417.1:c.*4298-3C>T	ENSP00000506706.1:n.*4298-3C>T
ENST00000680059.1:c.*2653-3C>T	ENSP00000504944.1:n.*2653-3C>T
ENST00000681078.1:c.*910-3C>T	ENSP00000506645.1:n.*910-3C>T
ENST00000681190.1:c.*1317-3C>T	ENSP00000506428.1:n.*1317-3C>T
ENST00000681874.1:c.5075-3C>T	ENSP00000505162.1:n.5075-3C>T
XM_005245478.2:c.5078-3C>T	XP_005245535.1:n.5078-3C>T
XM_005245478.3:c.5078-3C>T	XP_005245535.1:n.5078-3C>T
XR_001738364.1:n.1652-1139G>A
XR_001738365.1:n.1562-1139G>A
XR_001738366.1:n.1355-1139G>A
XR_001738367.1:n.1568-1139G>A
XR_001738368.1:n.1464-1139G>A
XR_001738369.1:n.1240-1139G>A
XR_001738370.1:n.1192-1139G>A
XR_001738371.1:n.586-1139G>A
XR_001738372.1:n.1058-1139G>A
XR_241170.3:n.1465-1139G>A
XR_922405.1:n.2003-1139G>A
XR_922405.3:n.2113-1139G>A
XR_922406.1:n.2281-1139G>A
XR_922407.1:n.2191-1139G>A
XR_922407.3:n.2301-1139G>A
XR_922408.1:n.1369-1139G>A
XR_922408.2:n.1374-1139G>A
XR_922409.1:n.1984-1139G>A
XR_922410.1:n.1391-1139G>A
XR_922410.2:n.1383-1139G>A
XR_922411.1:n.1983-1139G>A
XR_922412.1:n.2197-1139G>A
XR_922413.1:n.2093-1139G>A
XR_922414.1:n.1300-1139G>A
XR_922414.2:n.1292-1139G>A
XR_922415.1:n.1869-1139G>A
XR_922416.1:n.1309-1139G>A
XR_922416.2:n.1301-1139G>A
XR_922417.1:n.1887-1139G>A
XR_922417.3:n.1997-1139G>A
XR_922418.1:n.1821-1139G>A
XR_922419.1:n.1215-1139G>A
XR_922420.1:n.1687-1139G>A