Canonical Allele Identifier: CA344132769
Community Standard Title: NM_000069.3(CACNA1S):c.5129T>C (p.Val1710Ala)
Gene: CACNA1S HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.201041509A>G , CM000663.2:g.201041509A>G GRCh38
NC_000001.10:g.201010637A>G , CM000663.1:g.201010637A>G GRCh37
NC_000001.9:g.199277260A>G NCBI36
NG_009816.1:g.76058T>C
NG_009816.2:g.76058T>C

Transcript Alleles

HGVS Amino-acid Change
NM_000069.3:c.5129T>C MANE Select NP_000060.2:p.Val1710Ala
ENST00000362061.4:c.5129T>C MANE Select ENSP00000355192.3:p.Val1710Ala
NM_000069.2:c.5129T>C NP_000060.2:p.Val1710Ala
ENST00000362061.3:c.5129T>C ENSP00000355192.3:p.Val1710Ala
ENST00000367338.7:c.5072T>C ENSP00000356307.3:p.Val1691Ala
ENST00000679417.1:c.*4292T>C ENSP00000506706.1:n.*4292T>C
ENST00000680059.1:c.*2647T>C ENSP00000504944.1:n.*2647T>C
ENST00000681078.1:c.*904T>C ENSP00000506645.1:n.*904T>C
ENST00000681190.1:c.*1311T>C ENSP00000506428.1:n.*1311T>C
ENST00000681874.1:c.5069T>C ENSP00000505162.1:p.Val1690Ala
XM_005245478.2:c.5072T>C XP_005245535.1:p.Val1691Ala
XM_005245478.3:c.5072T>C XP_005245535.1:p.Val1691Ala
XR_001738364.1:n.1652-346A>G
XR_001738365.1:n.1562-346A>G
XR_001738366.1:n.1355-346A>G
XR_001738367.1:n.1568-346A>G
XR_001738368.1:n.1464-346A>G
XR_001738369.1:n.1240-346A>G
XR_001738370.1:n.1192-346A>G
XR_001738371.1:n.586-346A>G
XR_001738372.1:n.1058-346A>G
XR_241170.3:n.1465-346A>G
XR_922405.1:n.2003-346A>G
XR_922405.3:n.2113-346A>G
XR_922406.1:n.2281-346A>G
XR_922407.1:n.2191-346A>G
XR_922407.3:n.2301-346A>G
XR_922408.1:n.1369-346A>G
XR_922408.2:n.1374-346A>G
XR_922409.1:n.1984-346A>G
XR_922410.1:n.1391-346A>G
XR_922410.2:n.1383-346A>G
XR_922411.1:n.1983-346A>G
XR_922412.1:n.2197-346A>G
XR_922413.1:n.2093-346A>G
XR_922414.1:n.1300-346A>G
XR_922414.2:n.1292-346A>G
XR_922415.1:n.1869-346A>G
XR_922416.1:n.1309-346A>G
XR_922416.2:n.1301-346A>G
XR_922417.1:n.1887-346A>G
XR_922417.3:n.1997-346A>G
XR_922418.1:n.1821-346A>G
XR_922419.1:n.1215-346A>G
XR_922420.1:n.1687-346A>G