Canonical Allele Identifier: CA2323828041
Gene: CACNA1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13303735C= , CM000681.2:g.13303735C= GRCh38
NC_000019.9:g.13414549C= , CM000681.1:g.13414549C= GRCh37
NC_000019.8:g.13275549C= NCBI36
NG_011569.1:g.207726G= , LRG_7:g.207726G=

Transcript Alleles

HGVS Amino-acid change
ENST00000360228.11:c.2104+32G= MANE Select ENSP00000353362.5:n.2104+32G=
ENST00000573710.7:c.2110+32G= ENSP00000460092.3:n.2110+32G=
ENST00000635727.1:c.2107+32G= ENSP00000490001.1:n.2107+32G=
ENST00000635895.1:c.2107+32G= ENSP00000490323.1:n.2107+32G=
ENST00000636012.1:c.2107+32G= ENSP00000490223.1:n.2107+32G=
ENST00000636389.1:c.2107+32G= ENSP00000489992.1:n.2107+32G=
ENST00000636549.1:c.2107+32G= ENSP00000490578.1:n.2107+32G=
ENST00000637276.1:c.2107+32G= ENSP00000489777.1:n.2107+32G=
ENST00000637432.1:c.2107+32G= ENSP00000490617.1:n.2107+32G=
ENST00000637736.1:c.1966+32G= ENSP00000489861.1:n.1966+32G=
ENST00000637769.1:c.2107+32G= ENSP00000489778.1:n.2107+32G=
ENST00000637927.1:c.2110+32G= ENSP00000489715.1:n.2110+32G=
ENST00000638009.2:c.2107+32G= ENSP00000489913.1:n.2107+32G=
ENST00000638029.1:c.2107+32G= ENSP00000489829.1:n.2107+32G=
ENST00000664864.1:c.2302+32G= ENSP00000499449.1:n.2302+32G=
ENST00000360228.9:c.2104+32G= ENSP00000353362.5:n.2104+32G=
ENST00000573710.6:c.2107+32G= ENSP00000460092.2:n.2107+32G=
ENST00000614285.4:c.2107+32G= ENSP00000479983.1:n.2107+32G=
NM_000068.3:c.2107+32G= NP_000059.3:n.2107+32G=
NM_001127221.1:c.2107+32G= , LRG_7t1:c.2107+32G= NP_001120693.1:n.2107+32G=
NM_001127222.1:c.2104+32G= NP_001120694.1:n.2104+32G=
NM_001174080.1:c.2107+32G= NP_001167551.1:n.2107+32G=
NM_023035.2:c.2107+32G= NP_075461.2:n.2107+32G=
NM_000068.4:c.2107+32G= NP_000059.3:n.2107+32G=
NM_001127222.2:c.2104+32G= MANE Select NP_001120694.1:n.2104+32G=
NM_001174080.2:c.2107+32G= NP_001167551.1:n.2107+32G=
NM_023035.3:c.2107+32G= NP_075461.2:n.2107+32G=
NM_001127221.2:c.2107+32G= NP_001120693.1:n.2107+32G=