Canonical Allele Identifier: CA404333764

Gene: CACNA1A

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13230193A>G , CM000681.2:g.13230193A>G	GRCh38
NC_000019.9:g.13341007A>G , CM000681.1:g.13341007A>G	GRCh37
NC_000019.8:g.13202007A>G	NCBI36
NG_011569.1:g.281268T>C , LRG_7:g.281268T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001127222.2:c.5417T>C MANE Select	NP_001120694.1:p.Val1806Ala
ENST00000360228.11:c.5417T>C MANE Select	ENSP00000353362.5:p.Val1806Ala
NM_000068.3:c.5435T>C	NP_000059.3:p.Val1812Ala
NM_000068.4:c.5435T>C	NP_000059.3:p.Val1812Ala
NM_001127221.1:c.5420T>C , LRG_7t1:c.5420T>C	NP_001120693.1:p.Val1807Ala
NM_001127221.2:c.5420T>C	NP_001120693.1:p.Val1807Ala
NM_001127222.1:c.5417T>C	NP_001120694.1:p.Val1806Ala
NM_001174080.1:c.5426T>C	NP_001167551.1:p.Val1809Ala
NM_001174080.2:c.5426T>C	NP_001167551.1:p.Val1809Ala
NM_023035.2:c.5435T>C	NP_075461.2:p.Val1812Ala
NM_023035.3:c.5435T>C	NP_075461.2:p.Val1812Ala
ENST00000360228.9:c.5417T>C	ENSP00000353362.5:p.Val1806Ala
ENST00000573710.6:c.5420T>C	ENSP00000460092.2:p.Val1807Ala
ENST00000573710.7:c.5423T>C	ENSP00000460092.3:p.Val1808Ala
ENST00000573891.6:c.836T>C
ENST00000574822.5:n.641T>C
ENST00000574822.6:n.641T>C
ENST00000585802.5:c.1475T>C	ENSP00000465598.1:p.Val492Ala
ENST00000585802.6:c.578T>C	ENSP00000465598.2:p.Val193Ala
ENST00000587525.5:c.878T>C	ENSP00000467729.1:p.Val293Ala
ENST00000614285.4:c.5435T>C	ENSP00000479983.1:p.Val1812Ala
ENST00000635727.1:c.5420T>C	ENSP00000490001.1:p.Val1807Ala
ENST00000635742.1:n.1406T>C
ENST00000635895.1:c.5420T>C	ENSP00000490323.1:p.Val1807Ala
ENST00000636012.1:c.5420T>C	ENSP00000490223.1:p.Val1807Ala
ENST00000636389.1:c.5420T>C	ENSP00000489992.1:p.Val1807Ala
ENST00000636473.1:c.495+1517T>C	ENSP00000490173.1:n.495+1517T>C
ENST00000636549.1:c.5426T>C	ENSP00000490578.1:p.Val1809Ala
ENST00000636768.1:c.44T>C	ENSP00000490190.1:p.Val15Ala
ENST00000637276.1:c.5420T>C	ENSP00000489777.1:p.Val1807Ala
ENST00000637432.1:c.5435T>C	ENSP00000490617.1:p.Val1812Ala
ENST00000637736.1:c.5279T>C	ENSP00000489861.1:p.Val1760Ala
ENST00000637769.1:c.5420T>C	ENSP00000489778.1:p.Val1807Ala
ENST00000637777.1:c.611T>C
ENST00000637809.1:n.810T>C
ENST00000637819.1:c.821T>C	ENSP00000490686.1:p.Val274Ala
ENST00000637832.1:n.411T>C
ENST00000637927.1:c.5423T>C	ENSP00000489715.1:p.Val1808Ala
ENST00000638009.2:c.5420T>C	ENSP00000489913.1:p.Val1807Ala
ENST00000638029.1:c.5435T>C	ENSP00000489829.1:p.Val1812Ala
ENST00000664864.1:c.5621T>C	ENSP00000499449.1:p.Val1874Ala