Canonical Allele Identifier: CA404334670

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13214599T>C , CM000681.2:g.13214599T>C	GRCh38
NC_000019.9:g.13325413T>C , CM000681.1:g.13325413T>C	GRCh37
NC_000019.8:g.13186413T>C	NCBI36
NG_011569.1:g.296862A>G , LRG_7:g.296862A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001127222.2:c.5741A>G MANE Select	NP_001120694.1:p.Asp1914Gly
ENST00000360228.11:c.5741A>G MANE Select	ENSP00000353362.5:p.Asp1914Gly
NM_000068.3:c.5759A>G	NP_000059.3:p.Asp1920Gly
NM_000068.4:c.5759A>G	NP_000059.3:p.Asp1920Gly
NM_001127221.1:c.5744A>G , LRG_7t1:c.5744A>G	NP_001120693.1:p.Asp1915Gly
NM_001127221.2:c.5744A>G	NP_001120693.1:p.Asp1915Gly
NM_001127222.1:c.5741A>G	NP_001120694.1:p.Asp1914Gly
NM_001174080.1:c.5750A>G	NP_001167551.1:p.Asp1917Gly
NM_001174080.2:c.5750A>G	NP_001167551.1:p.Asp1917Gly
NM_023035.2:c.5759A>G	NP_075461.2:p.Asp1920Gly
NM_023035.3:c.5759A>G	NP_075461.2:p.Asp1920Gly
ENST00000360228.9:c.5741A>G	ENSP00000353362.5:p.Asp1914Gly
ENST00000573710.6:c.5744A>G	ENSP00000460092.2:p.Asp1915Gly
ENST00000573710.7:c.5747A>G	ENSP00000460092.3:p.Asp1916Gly
ENST00000585802.5:c.1799A>G	ENSP00000465598.1:p.Asp600Gly
ENST00000585802.6:c.902A>G	ENSP00000465598.2:p.Asp301Gly
ENST00000586190.1:n.300A>G
ENST00000587525.5:c.1202A>G	ENSP00000467729.1:p.Asp401Gly
ENST00000614285.4:c.5759A>G	ENSP00000479983.1:p.Asp1920Gly
ENST00000635727.1:c.5744A>G	ENSP00000490001.1:p.Asp1915Gly
ENST00000635895.1:c.5744A>G	ENSP00000490323.1:p.Asp1915Gly
ENST00000635988.1:n.1899A>G
ENST00000636012.1:c.5744A>G	ENSP00000490223.1:p.Asp1915Gly
ENST00000636074.1:n.636A>G
ENST00000636389.1:c.5744A>G	ENSP00000489992.1:p.Asp1915Gly
ENST00000636473.1:c.611A>G	ENSP00000490173.1:p.Asp204Gly
ENST00000636549.1:c.5750A>G	ENSP00000490578.1:p.Asp1917Gly
ENST00000636610.1:n.658A>G
ENST00000636768.1:c.271A>G	ENSP00000490190.1:n.271A>G
ENST00000637276.1:c.5744A>G	ENSP00000489777.1:p.Asp1915Gly
ENST00000637432.1:c.5759A>G	ENSP00000490617.1:p.Asp1920Gly
ENST00000637736.1:c.5603A>G	ENSP00000489861.1:p.Asp1868Gly
ENST00000637769.1:c.5744A>G	ENSP00000489778.1:p.Asp1915Gly
ENST00000637819.1:c.1145A>G	ENSP00000490686.1:p.Asp382Gly
ENST00000637927.1:c.5747A>G	ENSP00000489715.1:p.Asp1916Gly
ENST00000638009.2:c.5744A>G	ENSP00000489913.1:p.Asp1915Gly
ENST00000638029.1:c.5759A>G	ENSP00000489829.1:p.Asp1920Gly
ENST00000664864.1:c.5945A>G	ENSP00000499449.1:p.Asp1982Gly