Canonical Allele Identifier: CA2323842050
Community Standard Title: NM_001127222.2(CACNA1A):c.1084G= (p.Glu362=)
Gene: CACNA1A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.13334492C= , CM000681.2:g.13334492C= GRCh38
NC_000019.9:g.13445306C= , CM000681.1:g.13445306C= GRCh37
NC_000019.8:g.13306306C= NCBI36
NG_011569.1:g.176969G= , LRG_7:g.176969G=

Transcript Alleles

HGVS Amino-acid Change
NM_001127222.2:c.1084G= MANE Select NP_001120694.1:p.Glu362=
ENST00000360228.11:c.1084G= MANE Select ENSP00000353362.5:p.Glu362=
NM_000068.3:c.1084G= NP_000059.3:p.Glu362=
NM_000068.4:c.1084G= NP_000059.3:p.Glu362=
NM_001127221.1:c.1084G= , LRG_7t1:c.1084G= NP_001120693.1:p.Glu362=
NM_001127221.2:c.1084G= NP_001120693.1:p.Glu362=
NM_001127222.1:c.1084G= NP_001120694.1:p.Glu362=
NM_001174080.1:c.1084G= NP_001167551.1:p.Glu362=
NM_001174080.2:c.1084G= NP_001167551.1:p.Glu362=
NM_023035.2:c.1084G= NP_075461.2:p.Glu362=
NM_023035.3:c.1084G= NP_075461.2:p.Glu362=
ENST00000360228.9:c.1084G= ENSP00000353362.5:p.Glu362=
ENST00000573710.6:c.1084G= ENSP00000460092.2:p.Glu362=
ENST00000573710.7:c.1084G= ENSP00000460092.3:p.Glu362=
ENST00000593160.1:n.304G=
ENST00000593160.2:n.799G=
ENST00000614285.4:c.1084G= ENSP00000479983.1:p.Glu362=
ENST00000635727.1:c.1084G= ENSP00000490001.1:p.Glu362=
ENST00000635895.1:c.1084G= ENSP00000490323.1:p.Glu362=
ENST00000636012.1:c.1084G= ENSP00000490223.1:p.Glu362=
ENST00000636389.1:c.1084G= ENSP00000489992.1:p.Glu362=
ENST00000636549.1:c.1084G= ENSP00000490578.1:p.Glu362=
ENST00000636974.1:n.443G=
ENST00000637276.1:c.1084G= ENSP00000489777.1:p.Glu362=
ENST00000637432.1:c.1084G= ENSP00000490617.1:p.Glu362=
ENST00000637736.1:c.943G= ENSP00000489861.1:p.Glu315=
ENST00000637769.1:c.1084G= ENSP00000489778.1:p.Glu362=
ENST00000637927.1:c.1084G= ENSP00000489715.1:p.Glu362=
ENST00000637966.1:n.937G=
ENST00000638009.2:c.1084G= ENSP00000489913.1:p.Glu362=
ENST00000638029.1:c.1084G= ENSP00000489829.1:p.Glu362=
ENST00000664864.1:c.1279G= ENSP00000499449.1:p.Glu427=