Canonical Allele Identifier: CA266053
Gene: CACNA1A HGNC NCBI

Linked Data

ClinVar Variation Id: 68433
dbSNP Id: rs121908220

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13235685G>A , CM000681.2:g.13235685G>A GRCh38
NC_000019.9:g.13346499G>A , CM000681.1:g.13346499G>A GRCh37
NC_000019.8:g.13207499G>A NCBI36
NG_011569.1:g.275776C>T , LRG_7:g.275776C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000360228.11:c.4996C>T MANE Select ENSP00000353362.5:p.Arg1666Trp
ENST00000573710.7:c.5002C>T ENSP00000460092.3:p.Arg1668Trp
ENST00000573891.6:c.415C>T
ENST00000574822.6:n.220C>T
ENST00000585802.6:c.157C>T ENSP00000465598.2:p.Arg53Trp
ENST00000593267.2:n.201C>T
ENST00000635727.1:c.4999C>T ENSP00000490001.1:p.Arg1667Trp
ENST00000635742.1:n.985C>T
ENST00000635895.1:c.4999C>T ENSP00000490323.1:p.Arg1667Trp
ENST00000636012.1:c.4999C>T ENSP00000490223.1:p.Arg1667Trp
ENST00000636058.1:c.311C>T
ENST00000636389.1:c.4999C>T ENSP00000489992.1:p.Arg1667Trp
ENST00000636473.1:c.157C>T ENSP00000490173.1:p.Arg53Trp
ENST00000636549.1:c.5005C>T ENSP00000490578.1:p.Arg1669Trp
ENST00000637276.1:c.4999C>T ENSP00000489777.1:p.Arg1667Trp
ENST00000637297.1:c.292C>T ENSP00000489692.1:p.Arg98Trp
ENST00000637432.1:c.5014C>T ENSP00000490617.1:p.Arg1672Trp
ENST00000637736.1:c.4858C>T ENSP00000489861.1:p.Arg1620Trp
ENST00000637769.1:c.4999C>T ENSP00000489778.1:p.Arg1667Trp
ENST00000637777.1:c.256C>T
ENST00000637809.1:n.389C>T
ENST00000637819.1:c.400C>T ENSP00000490686.1:p.Arg134Trp
ENST00000637927.1:c.5002C>T ENSP00000489715.1:p.Arg1668Trp
ENST00000638009.2:c.4999C>T ENSP00000489913.1:p.Arg1667Trp
ENST00000638029.1:c.5014C>T ENSP00000489829.1:p.Arg1672Trp
ENST00000664864.1:c.5200C>T ENSP00000499449.1:p.Arg1734Trp
ENST00000360228.9:c.4996C>T ENSP00000353362.5:p.Arg1666Trp
ENST00000573710.6:c.4999C>T ENSP00000460092.2:p.Arg1667Trp
ENST00000573891.5:c.415C>T
ENST00000574822.5:n.220C>T
ENST00000585802.5:c.1054C>T ENSP00000465598.1:p.Arg352Trp
ENST00000587525.5:c.457C>T ENSP00000467729.1:p.Arg153Trp
ENST00000593267.1:n.201C>T
ENST00000614285.4:c.5014C>T ENSP00000479983.1:p.Arg1672Trp
NM_000068.3:c.5014C>T NP_000059.3:p.Arg1672Trp
NM_001127221.1:c.4999C>T , LRG_7t1:c.4999C>T NP_001120693.1:p.Arg1667Trp
NM_001127222.1:c.4996C>T NP_001120694.1:p.Arg1666Trp
NM_001174080.1:c.5005C>T NP_001167551.1:p.Arg1669Trp
NM_023035.2:c.5014C>T NP_075461.2:p.Arg1672Trp
NM_000068.4:c.5014C>T NP_000059.3:p.Arg1672Trp
NM_001127222.2:c.4996C>T MANE Select NP_001120694.1:p.Arg1666Trp
NM_001174080.2:c.5005C>T NP_001167551.1:p.Arg1669Trp
NM_023035.3:c.5014C>T NP_075461.2:p.Arg1672Trp
NM_001127221.2:c.4999C>T NP_001120693.1:p.Arg1667Trp