Canonical Allele Identifier: CA404334923

Gene: CACNA1A

Linked Data

• MyVariant Identifiers: chr19:g.13342664C>A (hg19) ; chr19:g.13231850C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.13231850C>A , CM000681.2:g.13231850C>A	GRCh38
NC_000019.9:g.13342664C>A , CM000681.1:g.13342664C>A	GRCh37
NC_000019.8:g.13203664C>A	NCBI36
NG_011569.1:g.279611G>T , LRG_7:g.279611G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000360228.11:c.5260G>T MANE Select	ENSP00000353362.5:p.Gly1754Trp
ENST00000573710.7:c.5266G>T	ENSP00000460092.3:p.Gly1756Trp
ENST00000573891.6:c.679G>T
ENST00000574822.6:n.484G>T
ENST00000585802.6:c.421G>T	ENSP00000465598.2:p.Gly141Trp
ENST00000635727.1:c.5263G>T	ENSP00000490001.1:p.Gly1755Trp
ENST00000635742.1:n.1249G>T
ENST00000635895.1:c.5263G>T	ENSP00000490323.1:p.Gly1755Trp
ENST00000636012.1:c.5263G>T	ENSP00000490223.1:p.Gly1755Trp
ENST00000636058.1:c.575G>T
ENST00000636389.1:c.5263G>T	ENSP00000489992.1:p.Gly1755Trp
ENST00000636473.1:c.355G>T	ENSP00000490173.1:p.Gly119Trp
ENST00000636549.1:c.5269G>T	ENSP00000490578.1:p.Gly1757Trp
ENST00000637276.1:c.5263G>T	ENSP00000489777.1:p.Gly1755Trp
ENST00000637297.1:c.556G>T	ENSP00000489692.1:p.Gly186Trp
ENST00000637432.1:c.5278G>T	ENSP00000490617.1:p.Gly1760Trp
ENST00000637736.1:c.5122G>T	ENSP00000489861.1:p.Gly1708Trp
ENST00000637769.1:c.5263G>T	ENSP00000489778.1:p.Gly1755Trp
ENST00000637777.1:c.454G>T
ENST00000637809.1:n.653G>T
ENST00000637819.1:c.664G>T	ENSP00000490686.1:p.Gly222Trp
ENST00000637832.1:n.254G>T
ENST00000637927.1:c.5266G>T	ENSP00000489715.1:p.Gly1756Trp
ENST00000638009.2:c.5263G>T	ENSP00000489913.1:p.Gly1755Trp
ENST00000638029.1:c.5278G>T	ENSP00000489829.1:p.Gly1760Trp
ENST00000664864.1:c.5464G>T	ENSP00000499449.1:p.Gly1822Trp
ENST00000360228.9:c.5260G>T	ENSP00000353362.5:p.Gly1754Trp
ENST00000573710.6:c.5263G>T	ENSP00000460092.2:p.Gly1755Trp
ENST00000573891.5:c.679G>T
ENST00000574822.5:n.484G>T
ENST00000585802.5:c.1318G>T	ENSP00000465598.1:p.Gly440Trp
ENST00000587525.5:c.721G>T	ENSP00000467729.1:p.Gly241Trp
ENST00000614285.4:c.5278G>T	ENSP00000479983.1:p.Gly1760Trp
NM_000068.3:c.5278G>T	NP_000059.3:p.Gly1760Trp
NM_001127221.1:c.5263G>T , LRG_7t1:c.5263G>T	NP_001120693.1:p.Gly1755Trp
NM_001127222.1:c.5260G>T	NP_001120694.1:p.Gly1754Trp
NM_001174080.1:c.5269G>T	NP_001167551.1:p.Gly1757Trp
NM_023035.2:c.5278G>T	NP_075461.2:p.Gly1760Trp
NM_000068.4:c.5278G>T	NP_000059.3:p.Gly1760Trp
NM_001127222.2:c.5260G>T MANE Select	NP_001120694.1:p.Gly1754Trp
NM_001174080.2:c.5269G>T	NP_001167551.1:p.Gly1757Trp
NM_023035.3:c.5278G>T	NP_075461.2:p.Gly1760Trp
NM_001127221.2:c.5263G>T	NP_001120693.1:p.Gly1755Trp