Canonical Allele Identifier: CA083709

Gene: CACNA1S

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.201041595A>G , CM000663.2:g.201041595A>G	GRCh38
NC_000001.10:g.201010723A>G , CM000663.1:g.201010723A>G	GRCh37
NC_000001.9:g.199277346A>G	NCBI36
NG_009816.1:g.75972T>C
NG_009816.2:g.75972T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000069.3:c.5049-6T>C MANE Select	NP_000060.2:n.5049-6T>C
ENST00000362061.4:c.5049-6T>C MANE Select	ENSP00000355192.3:n.5049-6T>C
NM_000069.2:c.5049-6T>C	NP_000060.2:n.5049-6T>C
ENST00000362061.3:c.5049-6T>C	ENSP00000355192.3:n.5049-6T>C
ENST00000367338.7:c.4992-6T>C	ENSP00000356307.3:n.4992-6T>C
ENST00000679417.1:c.*4212-6T>C	ENSP00000506706.1:n.*4212-6T>C
ENST00000680059.1:c.*2567-6T>C	ENSP00000504944.1:n.*2567-6T>C
ENST00000681078.1:c.*824-6T>C	ENSP00000506645.1:n.*824-6T>C
ENST00000681190.1:c.*1231-6T>C	ENSP00000506428.1:n.*1231-6T>C
ENST00000681874.1:c.4989-6T>C	ENSP00000505162.1:n.4989-6T>C
XM_005245478.2:c.4992-6T>C	XP_005245535.1:n.4992-6T>C
XM_005245478.3:c.4992-6T>C	XP_005245535.1:n.4992-6T>C
XR_001738364.1:n.1652-260A>G
XR_001738365.1:n.1562-260A>G
XR_001738366.1:n.1355-260A>G
XR_001738367.1:n.1568-260A>G
XR_001738368.1:n.1464-260A>G
XR_001738369.1:n.1240-260A>G
XR_001738370.1:n.1192-260A>G
XR_001738371.1:n.586-260A>G
XR_001738372.1:n.1058-260A>G
XR_241170.3:n.1465-260A>G
XR_922405.1:n.2003-260A>G
XR_922405.3:n.2113-260A>G
XR_922406.1:n.2281-260A>G
XR_922407.1:n.2191-260A>G
XR_922407.3:n.2301-260A>G
XR_922408.1:n.1369-260A>G
XR_922408.2:n.1374-260A>G
XR_922409.1:n.1984-260A>G
XR_922410.1:n.1391-260A>G
XR_922410.2:n.1383-260A>G
XR_922411.1:n.1983-260A>G
XR_922412.1:n.2197-260A>G
XR_922413.1:n.2093-260A>G
XR_922414.1:n.1300-260A>G
XR_922414.2:n.1292-260A>G
XR_922415.1:n.1869-260A>G
XR_922416.1:n.1309-260A>G
XR_922416.2:n.1301-260A>G
XR_922417.1:n.1887-260A>G
XR_922417.3:n.1997-260A>G
XR_922418.1:n.1821-260A>G
XR_922419.1:n.1215-260A>G
XR_922420.1:n.1687-260A>G