Canonical Allele Identifier: CA422815219

Gene: CACNA1S

Linked Data

• ClinVar Variation Id: 474004
• ClinVar RCV Id: RCV000558089
• dbSNP Id: rs1553247345
• MyVariant Identifiers: chr1:g.201009193G>A (hg19) ; chr1:g.201040065G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201040065G>A , CM000663.2:g.201040065G>A	GRCh38
NC_000001.10:g.201009193G>A , CM000663.1:g.201009193G>A	GRCh37
NC_000001.9:g.199275816G>A	NCBI36
NG_009816.1:g.77502C>T
NG_009816.2:g.77502C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000362061.4:c.5388C>T MANE Select	ENSP00000355192.3:p.Gly1796=
ENST00000679417.1:c.*4551C>T	ENSP00000506706.1:n.*4551C>T
ENST00000680059.1:c.*2906C>T	ENSP00000504944.1:n.*2906C>T
ENST00000681078.1:c.*1163C>T	ENSP00000506645.1:n.*1163C>T
ENST00000681190.1:c.*1570C>T	ENSP00000506428.1:n.*1570C>T
ENST00000681874.1:c.5328C>T	ENSP00000505162.1:p.Gly1776=
ENST00000362061.3:c.5388C>T	ENSP00000355192.3:p.Gly1796=
ENST00000367338.7:c.5331C>T	ENSP00000356307.3:p.Gly1777=
NM_000069.2:c.5388C>T	NP_000060.2:p.Gly1796=
XM_005245478.2:c.5331C>T	XP_005245535.1:p.Gly1777=
XR_241170.3:n.1465-1790G>A
XR_922405.1:n.2003-1790G>A
XR_922406.1:n.2281-1790G>A
XR_922407.1:n.2191-1790G>A
XR_922408.1:n.1369-1790G>A
XR_922409.1:n.1984-1790G>A
XR_922410.1:n.1391-1790G>A
XR_922411.1:n.1983-1790G>A
XR_922412.1:n.2197-1790G>A
XR_922413.1:n.2093-1790G>A
XR_922414.1:n.1300-1790G>A
XR_922415.1:n.1869-1790G>A
XR_922416.1:n.1309-1790G>A
XR_922417.1:n.1887-1790G>A
XR_922418.1:n.1821-1790G>A
XR_922419.1:n.1215-1790G>A
XR_922420.1:n.1687-1790G>A
XM_005245478.3:c.5331C>T	XP_005245535.1:p.Gly1777=
XR_001738364.1:n.1652-1790G>A
XR_001738365.1:n.1562-1790G>A
XR_001738366.1:n.1355-1790G>A
XR_001738367.1:n.1568-1790G>A
XR_001738368.1:n.1464-1790G>A
XR_001738369.1:n.1240-1790G>A
XR_001738370.1:n.1192-1790G>A
XR_001738371.1:n.586-1790G>A
XR_001738372.1:n.1058-1790G>A
XR_922405.3:n.2113-1790G>A
XR_922407.3:n.2301-1790G>A
XR_922408.2:n.1374-1790G>A
XR_922410.2:n.1383-1790G>A
XR_922414.2:n.1292-1790G>A
XR_922416.2:n.1301-1790G>A
XR_922417.3:n.1997-1790G>A
NM_000069.3:c.5388C>T MANE Select	NP_000060.2:p.Gly1796=